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Abca4/Rdh8-DKO
製品ID :
C001968
系統:
C57BL/6JCya
状況:
説明:
The Abca4/Rdh8-DKO mouse is a dual-gene knockout model obtained by mating Rdh8-KO mice (catalog No.: C001969) with Abca4-KO mice (catalog No.: C002024). This model can be used to investigate the pathogenic mechanisms and therapeutic strategies of diseases, including Stargardt disease (STGD) and age‑related macular degeneration (AMD), and facilitates the evaluation of synergistic effects of polygenic therapies.
The Abca4/Rdh8-DKO mouse is a dual-gene knockout model obtained by mating Rdh8-KO mice (catalog No.: C001969) with Abca4-KO mice (catalog No.: C002024). This model can be used to investigate the pathogenic mechanisms and therapeutic strategies of diseases, including Stargardt disease (STGD) and age‑related macular degeneration (AMD), and facilitates the evaluation of synergistic effects of polygenic therapies.
Abca4-KO
製品ID :
C002024
系統:
C57BL/6JCya
状況:
説明:
Stargardt disease (STGD), a hereditary macular dystrophy, is characterized by the presence of yellowish flecks within the retinal pigment epithelium (RPE), ultimately culminating in macular atrophy. Typically manifesting in childhood and adolescence, STGD leads to progressive central vision loss and mild dyschromatopsia. Fundoscopic examination may reveal pale yellow lesions exhibiting a characteristic gold foil-like sheen, accompanied by yellow-white spots surrounding the posterior pole. In advanced stages, atrophy of the RPE, photoreceptors, and choriocapillaris is observed. This bilateral and typically synchronous condition affects both eyes with comparable incidence across sexes, estimated between 1/8,000 and 1/13,000. STGD is predominantly an autosomal recessive disorder, with mutations in the ABCA4 gene accounting for approximately 95% of cases. ABCA4 encodes a retina-specific ABC transporter protein crucial for the clearance of retinal derivatives and toxic metabolites generated during rhodopsin photobleaching. Consequently, ABCA4 mutations result in the accumulation of these cytotoxic substances, triggering apoptosis of both RPE and photoreceptor cells and ultimately driving retinal degeneration. Notably, ABCA4 mutations have been implicated in a spectrum of retinal diseases, including STGD, cone-rod dystrophy (CRD), age-related macular degeneration (AMD), and retinitis pigmentosa (RP), with the specific clinical phenotype correlating with the nature and severity of the ABCA4 mutation.
This strain is an Abca4 gene knockout (KO) mouse model. Gene-editing technology was used to delete the protein-coding sequence of the Abca4 gene (the homolog of the human ABCA4 gene) in mice. Previous studies have demonstrated that Abca4 KO mice exhibit delayed dark adaptation following photobleaching and a slow progression of photoreceptor degeneration[1]. Homozygous Abca4-KO mice are viable and fertile.
Stargardt disease (STGD), a hereditary macular dystrophy, is characterized by the presence of yellowish flecks within the retinal pigment epithelium (RPE), ultimately culminating in macular atrophy. Typically manifesting in childhood and adolescence, STGD leads to progressive central vision loss and mild dyschromatopsia. Fundoscopic examination may reveal pale yellow lesions exhibiting a characteristic gold foil-like sheen, accompanied by yellow-white spots surrounding the posterior pole. In advanced stages, atrophy of the RPE, photoreceptors, and choriocapillaris is observed. This bilateral and typically synchronous condition affects both eyes with comparable incidence across sexes, estimated between 1/8,000 and 1/13,000. STGD is predominantly an autosomal recessive disorder, with mutations in the ABCA4 gene accounting for approximately 95% of cases. ABCA4 encodes a retina-specific ABC transporter protein crucial for the clearance of retinal derivatives and toxic metabolites generated during rhodopsin photobleaching. Consequently, ABCA4 mutations result in the accumulation of these cytotoxic substances, triggering apoptosis of both RPE and photoreceptor cells and ultimately driving retinal degeneration. Notably, ABCA4 mutations have been implicated in a spectrum of retinal diseases, including STGD, cone-rod dystrophy (CRD), age-related macular degeneration (AMD), and retinitis pigmentosa (RP), with the specific clinical phenotype correlating with the nature and severity of the ABCA4 mutation.
This strain is an Abca4 gene knockout (KO) mouse model. Gene-editing technology was used to delete the protein-coding sequence of the Abca4 gene (the homolog of the human ABCA4 gene) in mice. Previous studies have demonstrated that Abca4 KO mice exhibit delayed dark adaptation following photobleaching and a slow progression of photoreceptor degeneration[1]. Homozygous Abca4-KO mice are viable and fertile.
Cfh-KO
製品ID :
C001776
系統:
C57BL/6JCya
状況:
説明:
The CFH gene encodes complement factor H, a crucial secreted plasma glycoprotein with twenty short consensus repeat (SCR) domains. Its primary function is to regulate the complement system, a vital part of the innate immune response. CFH acts to prevent uncontrolled activation of the complement pathway on healthy host cells and tissues, thereby restricting its destructive action to foreign invaders [1]. Gene expression of CFH is notably high in the liver, where it is synthesized and secreted into the bloodstream. It is also expressed in various other tissues, including ocular tissues like the retina and retinal pigment epithelium (RPE), sclera, and ciliary body, as well as in the kidney, lung, and certain immune cells [2-4]. The protein binds to C3b, accelerating the decay of alternative pathway C3-convertase and acting as a cofactor for Factor I-mediated inactivation of C3b [1-2]. Dysregulation or mutations in the CFH gene are associated with several diseases, including age-related macular degeneration (AMD), a common cause of vision loss characterized by drusen accumulation, atypical hemolytic-uremic syndrome (aHUS), which causes abnormal blood clots and kidney failure, C3 glomerulopathy (C3G), a rare kidney disease, and Membranoproliferative glomerulonephritis (MPGN), particularly type II (also known as Dense Deposit Disease), a group of kidney diseases characterized by inflammation and damage to the kidney's filtering units (glomeruli), often due to complement dysregulation [2-4].
The Cfh-KO mouse is a gene knockout model created using gene-editing techniques to knock out exons 2~3 of the Cfh gene (the homolog of the human CFH gene) in mice. This model can be used for research into the pathogenic mechanisms of diseases such as age-related macular degeneration, atypical hemolytic uremic syndrome, C3 glomerulopathy, and Type II membranoproliferative glomerulonephritis, as well as for the development of related treatment methods.
The CFH gene encodes complement factor H, a crucial secreted plasma glycoprotein with twenty short consensus repeat (SCR) domains. Its primary function is to regulate the complement system, a vital part of the innate immune response. CFH acts to prevent uncontrolled activation of the complement pathway on healthy host cells and tissues, thereby restricting its destructive action to foreign invaders [1]. Gene expression of CFH is notably high in the liver, where it is synthesized and secreted into the bloodstream. It is also expressed in various other tissues, including ocular tissues like the retina and retinal pigment epithelium (RPE), sclera, and ciliary body, as well as in the kidney, lung, and certain immune cells [2-4]. The protein binds to C3b, accelerating the decay of alternative pathway C3-convertase and acting as a cofactor for Factor I-mediated inactivation of C3b [1-2]. Dysregulation or mutations in the CFH gene are associated with several diseases, including age-related macular degeneration (AMD), a common cause of vision loss characterized by drusen accumulation, atypical hemolytic-uremic syndrome (aHUS), which causes abnormal blood clots and kidney failure, C3 glomerulopathy (C3G), a rare kidney disease, and Membranoproliferative glomerulonephritis (MPGN), particularly type II (also known as Dense Deposit Disease), a group of kidney diseases characterized by inflammation and damage to the kidney's filtering units (glomeruli), often due to complement dysregulation [2-4].
The Cfh-KO mouse is a gene knockout model created using gene-editing techniques to knock out exons 2~3 of the Cfh gene (the homolog of the human CFH gene) in mice. This model can be used for research into the pathogenic mechanisms of diseases such as age-related macular degeneration, atypical hemolytic uremic syndrome, C3 glomerulopathy, and Type II membranoproliferative glomerulonephritis, as well as for the development of related treatment methods.
Crb1-KO
製品ID :
C001886
系統:
C57BL/6JCya
状況:
説明:
The Crb1 gene, whose full name is Crumbs homolog 1, is a gene closely related to retinal development and function. The protein encoded by the Crb1 gene plays an important role in maintaining the connection and polarity between retinal pigment epithelial (RPE) cells and photoreceptor cells. RPE cells are responsible for absorbing and transmitting light signals, while photoreceptor cells are responsible for converting these signals into electrical signals, thus producing vision. Mutations in the Crb1 gene can lead to retinal dysplasia and functional disorders, causing a series of inherited retinal diseases, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, etc. [1]. Retinal diseases caused by Crb1 gene mutations are highly heterogeneous, and different mutations can lead to different clinical manifestations and disease severities. Diseases caused by Crb1 gene mutations are mainly characterized by the damage and death of retinal pigment epithelial cells and photoreceptor cells, resulting in vision loss and blindness. In addition, Crb1 gene mutations may also be associated with other eye diseases such as abnormal eye development and myopia [2].
Crb1-KO mice are a gene knockout (KO) model in which exon 3 of the Crb1 gene in mice has been knocked out using gene-editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, as well as for the development of relevant treatment methods.
The Crb1 gene, whose full name is Crumbs homolog 1, is a gene closely related to retinal development and function. The protein encoded by the Crb1 gene plays an important role in maintaining the connection and polarity between retinal pigment epithelial (RPE) cells and photoreceptor cells. RPE cells are responsible for absorbing and transmitting light signals, while photoreceptor cells are responsible for converting these signals into electrical signals, thus producing vision. Mutations in the Crb1 gene can lead to retinal dysplasia and functional disorders, causing a series of inherited retinal diseases, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, etc. [1]. Retinal diseases caused by Crb1 gene mutations are highly heterogeneous, and different mutations can lead to different clinical manifestations and disease severities. Diseases caused by Crb1 gene mutations are mainly characterized by the damage and death of retinal pigment epithelial cells and photoreceptor cells, resulting in vision loss and blindness. In addition, Crb1 gene mutations may also be associated with other eye diseases such as abnormal eye development and myopia [2].
Crb1-KO mice are a gene knockout (KO) model in which exon 3 of the Crb1 gene in mice has been knocked out using gene-editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, as well as for the development of relevant treatment methods.
Gucy2f-KO
製品ID :
C001887
系統:
C57BL/6JCya
状況:
説明:
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). RetGC2 is a retina-specific guanylate cyclase responsible for synthesizing cyclic guanosine monophosphate (cGMP) in photoreceptors. cGMP plays a crucial role in the retinal phototransduction process, participating in the photoreceptor's light signal transduction and light adaptation processes. The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [1-2]. Therefore, the study of Gucy2f is of great significance for understanding the pathogenesis of retinal diseases and developing new treatment methods. In addition, researchers have also found that somatic mutations of the GUCY2F gene exist in human cancers, including breast cancer, lung cancer, and pancreatic cancer [3]. These studies indicate that the GUCY2F gene may play an important role in the occurrence and development of cancer. The GUCY2F gene is also associated with pulmonary arterial hypertension, a severe complication of lung diseases that can lead to heart failure and death [4].
The Gucy2f-KO mouse is a gene-knockout (KO) model in which exon 3 of the Gucy2f gene in mice is knocked out using gene-editing technology. This model can be used for research on the pathogenic mechanisms of retinal diseases, such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD), as well as the development of relevant treatment methods.
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). RetGC2 is a retina-specific guanylate cyclase responsible for synthesizing cyclic guanosine monophosphate (cGMP) in photoreceptors. cGMP plays a crucial role in the retinal phototransduction process, participating in the photoreceptor's light signal transduction and light adaptation processes. The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [1-2]. Therefore, the study of Gucy2f is of great significance for understanding the pathogenesis of retinal diseases and developing new treatment methods. In addition, researchers have also found that somatic mutations of the GUCY2F gene exist in human cancers, including breast cancer, lung cancer, and pancreatic cancer [3]. These studies indicate that the GUCY2F gene may play an important role in the occurrence and development of cancer. The GUCY2F gene is also associated with pulmonary arterial hypertension, a severe complication of lung diseases that can lead to heart failure and death [4].
The Gucy2f-KO mouse is a gene-knockout (KO) model in which exon 3 of the Gucy2f gene in mice is knocked out using gene-editing technology. This model can be used for research on the pathogenic mechanisms of retinal diseases, such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD), as well as the development of relevant treatment methods.
Gucy2e-KO
製品ID :
C001927
系統:
C57BL/6JCya
状況:
説明:
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4].
Gucy2e-KO mice are gene knockout (KO) models in which exons 4 to 11 of the Gucy2e gene in mice are knocked out using gene editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4].
Gucy2e-KO mice are gene knockout (KO) models in which exons 4 to 11 of the Gucy2e gene in mice are knocked out using gene editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e&Gucy2f dKO
製品ID :
C001928
系統:
C57BL/6JCya
状況:
説明:
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions [5].
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [6-7].
Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions [5].
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [6-7].
Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
huRHO(2)-P23H/huRHO(2)
製品ID :
C001839
系統:
C57BL/6JCya
状況:
説明:
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Mutations in the RHO gene can lead to rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant inherited RP (adRP) cases, there are over 150 different RHO gene mutations. Notably, the P23H mutation is one of the most prevalent, accounting for 10% of adRP cases [2]. Previous studies have shown that mice carrying the heterozygous human RHO P23H mutation exhibit retinopathy and progressive retinal degeneration similar to the patient's disease process, which could be used for visual signaling and retinitis pigmentosa (RP) studies [3]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-11].
huRHO(2)-P23H/huRHO(2) mouse is an F1 humanized model generated by crossing homozygous huRHO(2) mice (Catalog No.: C001646) with homozygous huRHO(2)-P23H mice (Catalog No.: C001727). This model carries two human RHO gene alleles, both with humanized promoter regions. One allele is the wild-type human RHO (without mutation), while the other is the human RHO carrying a pathogenic point mutation (P23H) (hRHO*P23H). The abnormal proteins encoded by the human genes are expressed in mice, resulting in abnormal retinal morphology, functional impairments, and visual defects in this model. Additionally, leveraging the technological innovation of independently developed TurboKnockout-fused BAC recombination, Cyagen Biosciences can provide customized services for different point mutations based on B6-hRHO humanized mice to meet the experimental needs of researchers, such as pharmacodynamic studies related to retinitis pigmentosa (RP).
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Mutations in the RHO gene can lead to rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant inherited RP (adRP) cases, there are over 150 different RHO gene mutations. Notably, the P23H mutation is one of the most prevalent, accounting for 10% of adRP cases [2]. Previous studies have shown that mice carrying the heterozygous human RHO P23H mutation exhibit retinopathy and progressive retinal degeneration similar to the patient's disease process, which could be used for visual signaling and retinitis pigmentosa (RP) studies [3]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-11].
huRHO(2)-P23H/huRHO(2) mouse is an F1 humanized model generated by crossing homozygous huRHO(2) mice (Catalog No.: C001646) with homozygous huRHO(2)-P23H mice (Catalog No.: C001727). This model carries two human RHO gene alleles, both with humanized promoter regions. One allele is the wild-type human RHO (without mutation), while the other is the human RHO carrying a pathogenic point mutation (P23H) (hRHO*P23H). The abnormal proteins encoded by the human genes are expressed in mice, resulting in abnormal retinal morphology, functional impairments, and visual defects in this model. Additionally, leveraging the technological innovation of independently developed TurboKnockout-fused BAC recombination, Cyagen Biosciences can provide customized services for different point mutations based on B6-hRHO humanized mice to meet the experimental needs of researchers, such as pharmacodynamic studies related to retinitis pigmentosa (RP).
huRHO(2)-P23H
製品ID :
C001727
系統:
C57BL/6JCya
状況:
説明:
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Mutations in the RHO gene can lead to rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant inherited RP (adRP) cases, there are over 150 different RHO gene mutations. Notably, the P23H mutation is one of the most prevalent, accounting for 10% of adRP cases [2]. Previous studies have shown that mice carrying the heterozygous human RHO P23H mutation exhibit retinopathy and progressive retinal degeneration similar to the patient's disease process, which could be used for visual signaling and retinitis pigmentosa (RP) studies [3]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-11].
This strain is a mouse Rho gene humanized model, in which the endogenous mouse Rho gene and Rho gene promoter are replaced by the human RHO gene carrying a P23H mutation and RHO gene promoter to express human retinal proteins in mice. Therefore, the abnormal protein encoded by the human gene was expressed in mice, resulting in abnormal retinal appearance and function and visual defects in this model. Based on the self-developed technological innovation of TurboKnockout fusion BAC recombination, Cyagen can also provide customized services for different point mutations to meet the needs of a wide range of R&D personnel regarding the pharmacodynamics of retinitis pigmentosa (RP) and other preclinical needs.
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Mutations in the RHO gene can lead to rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant inherited RP (adRP) cases, there are over 150 different RHO gene mutations. Notably, the P23H mutation is one of the most prevalent, accounting for 10% of adRP cases [2]. Previous studies have shown that mice carrying the heterozygous human RHO P23H mutation exhibit retinopathy and progressive retinal degeneration similar to the patient's disease process, which could be used for visual signaling and retinitis pigmentosa (RP) studies [3]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-11].
This strain is a mouse Rho gene humanized model, in which the endogenous mouse Rho gene and Rho gene promoter are replaced by the human RHO gene carrying a P23H mutation and RHO gene promoter to express human retinal proteins in mice. Therefore, the abnormal protein encoded by the human gene was expressed in mice, resulting in abnormal retinal appearance and function and visual defects in this model. Based on the self-developed technological innovation of TurboKnockout fusion BAC recombination, Cyagen can also provide customized services for different point mutations to meet the needs of a wide range of R&D personnel regarding the pharmacodynamics of retinitis pigmentosa (RP) and other preclinical needs.
huRHO-P23H/huRHO
製品ID :
C001517
系統:
C57BL/6JCya
状況:
説明:
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-12].
This strain is a humanized model of the Rho gene with a heterozygous P23H mutation. It is obtained by mating homozygous B6J-hRHO mice (Catalog Number: C001396) with homozygous B6-hRHO-P23H mice (Catalog Number: C001495). In this model, the mouse Rho gene is replaced by the human RHO gene carrying the pathogenic mutation (P23H) and the human RHO gene without the mutation, respectively. The abnormal protein encoded by the mutant human gene is expressed in the mice. Therefore, the model exhibits abnormalities in the appearance and function of the retina, as well as visual defects. In addition, based on the technological innovation of TurboKnockout combined with BAC recombination developed independently, Cyagen Biosciences can also provide customized services for different point mutations based on B6-hRHO humanized mice to meet the experimental needs related to retinitis pigmentosa (RP) diseases. Mutations in the RHO gene are a major cause of RHO-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant RP (adRP) cases, over 150 different RHO gene mutants have been identified. The P23H mutation is one of the most common causes of autosomal dominant retinitis pigmentosa, accounting for approximately 10% of adRP cases [2]. Previous studies have demonstrated that heterozygous mice carrying this mutation exhibit retinal pathology and progressive retinal degeneration similar to the disease progression in patients [3], making them valuable for studying visual signal transduction and retinitis pigmentosa (RP). Homozygous mice develop the disease earlier and have more severe phenotypes compared to heterozygous mice. Considering the uncertainty of the growth status and survival period of homozygous mice due to blindness in the later stage, it is generally recommended to use heterozygous mice (huRHO-P23H/huRHO, Catalog Number: C001517) for experiments.
Retinitis pigmentosa (RP) is a hereditary retinal disease with a global prevalence of approximately 1:5000-1:3000. RP is highly clinically and genetically heterogeneous, with mutations in the rhodopsin (RHO) gene causing approximately 25% of dominant RP [1]. The rhodopsin encoded by the RHO gene is closely associated with visual light transduction and GPCR downstream signals. Rhodopsin is essential for the transmission of light signals in the process of vision formation. Most RHO mutations lead to high levels of rhodopsin expression in photoreceptor cells, causing many mutant proteins to be abnormally located and aggregated in cells. This results in the apoptosis of photoreceptor cells, which cannot perform normal light signal transduction functions. Additionally, mutations in the RHO gene are associated with congenital stationary night blindness (CSNB) [2-6]. Current gene therapy targeting the RHO gene to treat retinitis pigmentosa includes ASO, CRISPR, and others. Applying fully humanized animal models will promote the further development of RHO-related potential therapies in clinical trials [7-12].
This strain is a humanized model of the Rho gene with a heterozygous P23H mutation. It is obtained by mating homozygous B6J-hRHO mice (Catalog Number: C001396) with homozygous B6-hRHO-P23H mice (Catalog Number: C001495). In this model, the mouse Rho gene is replaced by the human RHO gene carrying the pathogenic mutation (P23H) and the human RHO gene without the mutation, respectively. The abnormal protein encoded by the mutant human gene is expressed in the mice. Therefore, the model exhibits abnormalities in the appearance and function of the retina, as well as visual defects. In addition, based on the technological innovation of TurboKnockout combined with BAC recombination developed independently, Cyagen Biosciences can also provide customized services for different point mutations based on B6-hRHO humanized mice to meet the experimental needs related to retinitis pigmentosa (RP) diseases. Mutations in the RHO gene are a major cause of RHO-mediated autosomal dominant retinitis pigmentosa (RHO-adRP). In 25% of autosomal dominant RP (adRP) cases, over 150 different RHO gene mutants have been identified. The P23H mutation is one of the most common causes of autosomal dominant retinitis pigmentosa, accounting for approximately 10% of adRP cases [2]. Previous studies have demonstrated that heterozygous mice carrying this mutation exhibit retinal pathology and progressive retinal degeneration similar to the disease progression in patients [3], making them valuable for studying visual signal transduction and retinitis pigmentosa (RP). Homozygous mice develop the disease earlier and have more severe phenotypes compared to heterozygous mice. Considering the uncertainty of the growth status and survival period of homozygous mice due to blindness in the later stage, it is generally recommended to use heterozygous mice (huRHO-P23H/huRHO, Catalog Number: C001517) for experiments.
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