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B6-hMECP2
製品ID :
C001568
系統:
C57BL/6NCya
状況:
説明:
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that occurs predominantly in female infants and young children. The incidence is approximately 1 in 10,000–15,000 females. Clinical features include intellectual disability, loss of language function, stereotyped hand movements, and gait abnormalities. Affected children typically have a period of normal development followed by stagnation of head circumference growth at 6–18 months of age, and regression of acquired skills. Overt cognitive and motor impairments develop 1–2 years later. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene account for >90% of RTT cases. MECP2 is a nuclear protein that binds to methylated DNA to regulate gene transcription. MECP2 duplications cause MECP2 duplication syndrome (MDS), while functional deficiency of MECP2 impairs the production of this nuclear protein, leading to central nervous system functional maturation disorders that affect learning and memory functions, resulting in RTT.
Treatment for RTT focuses mainly on gene supplementation therapy based on adeno-associated virus (AAV) vectors. This involves delivering human MECP2 genes via AAV vectors to compensate for the deficiency of MECP2 genes in patients. However, the large size of the MECP2 gene exceeds the delivery capacity of most vectors, and over-expression of the MECP2 gene can also lead to serious neurological diseases. These limitations have hindered the development of this therapy. Therefore, DNA/RNA editing to repair MECP2 gene mutations and restore normal expression of MECP2 protein has received widespread attention. Currently, multiple research groups have used CRISPR-based gene editing technology to repair mutations in the MECP2 gene in induced pluripotent stem cells (iPSCs) or ex vivo patient cells [1-2]. Animal studies are an essential part of preclinical research. RTT therapies based on small nucleic acids, CRISPR gene editing technology, base editors, and RNA editing technology target the human MECP2 gene. Humanized mouse models can help advance gene therapy drug pipelines into clinical stages [3-4].
This strain is a humanized MECP2 gene mouse model that can be used for RTT research. Homozygous B6-hMECP2 mice are viable and fertile. Additionally, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on this strain (B6-hMECP2*T158M, Catalog Number: C001569) and provide customized services for specific mutations to meet experimental needs in pharmacology and other RTT-related fields.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that occurs predominantly in female infants and young children. The incidence is approximately 1 in 10,000–15,000 females. Clinical features include intellectual disability, loss of language function, stereotyped hand movements, and gait abnormalities. Affected children typically have a period of normal development followed by stagnation of head circumference growth at 6–18 months of age, and regression of acquired skills. Overt cognitive and motor impairments develop 1–2 years later. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene account for >90% of RTT cases. MECP2 is a nuclear protein that binds to methylated DNA to regulate gene transcription. MECP2 duplications cause MECP2 duplication syndrome (MDS), while functional deficiency of MECP2 impairs the production of this nuclear protein, leading to central nervous system functional maturation disorders that affect learning and memory functions, resulting in RTT.
Treatment for RTT focuses mainly on gene supplementation therapy based on adeno-associated virus (AAV) vectors. This involves delivering human MECP2 genes via AAV vectors to compensate for the deficiency of MECP2 genes in patients. However, the large size of the MECP2 gene exceeds the delivery capacity of most vectors, and over-expression of the MECP2 gene can also lead to serious neurological diseases. These limitations have hindered the development of this therapy. Therefore, DNA/RNA editing to repair MECP2 gene mutations and restore normal expression of MECP2 protein has received widespread attention. Currently, multiple research groups have used CRISPR-based gene editing technology to repair mutations in the MECP2 gene in induced pluripotent stem cells (iPSCs) or ex vivo patient cells [1-2]. Animal studies are an essential part of preclinical research. RTT therapies based on small nucleic acids, CRISPR gene editing technology, base editors, and RNA editing technology target the human MECP2 gene. Humanized mouse models can help advance gene therapy drug pipelines into clinical stages [3-4].
This strain is a humanized MECP2 gene mouse model that can be used for RTT research. Homozygous B6-hMECP2 mice are viable and fertile. Additionally, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on this strain (B6-hMECP2*T158M, Catalog Number: C001569) and provide customized services for specific mutations to meet experimental needs in pharmacology and other RTT-related fields.
B6-hMECP2*T158M
製品ID :
C001569
系統:
C57BL/6NCya
状況:
説明:
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder primarily affecting female infants and young children, with an incidence of approximately 1 in 10,000 to 15,000 females. Characteristic clinical features include intellectual disability, loss of language skills, stereotypic hand movements, and gait disturbances. Affected individuals typically experience a period of normal development, followed by deceleration in head circumference growth between 6 to 18 months of age, and subsequent regression of acquired motor and cognitive abilities. Overt impairments in cognition and motor function generally emerge within 1 to 2 years. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are responsible for over 90% of RTT cases. MECP2 is a nuclear protein that binds methylated DNA to modulate gene transcription. MECP2 gene duplications lead to MECP2 duplication syndrome (MDS), while MECP2 deficiency disrupts central nervous system maturation, adversely affecting learning and memory, culminating in the clinical manifestations of RTT.
Current therapeutic strategies for RTT primarily revolve around gene supplementation using adeno-associated virus (AAV) vectors to deliver functional human MECP2 genes to compensate for the endogenous deficiency. However, the substantial size of the MECP2 gene surpasses the packaging capacity of most viral vectors, and overexpression of MECP2 poses a risk of severe neurological complications. These challenges have significantly impeded the progress of gene supplementation therapies. Consequently, the focus has shifted towards DNA/RNA editing approaches aimed at correcting MECP2 mutations and restoring physiological levels of MECP2 protein expression. Notably, several research groups have successfully employed CRISPR-based gene editing technologies to rectify MECP2 mutations in induced pluripotent stem cells (iPSCs) or patient-derived cells ex vivo [1-2]. Given the pivotal role of animal models in preclinical research, the development of humanized mouse models expressing the human MECP2 gene is crucial. These models facilitate the transition of gene therapy candidates—encompassing small nucleic acids, CRISPR-based editors, base editors, and RNA editing technologies—into clinical stages [3-4].
This strain is a humanized MECP2 gene mouse model, generated by replacing the endogenous mouse Mecp2 gene with the human MECP2 gene harboring the T158M mutation through embryonic stem cell targeting techniques. This mutation represents the most common human RTT-associated missense mutation in MECP2. Studies have shown that mice carrying this mutation recapitulate many clinical features of RTT [5].
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder primarily affecting female infants and young children, with an incidence of approximately 1 in 10,000 to 15,000 females. Characteristic clinical features include intellectual disability, loss of language skills, stereotypic hand movements, and gait disturbances. Affected individuals typically experience a period of normal development, followed by deceleration in head circumference growth between 6 to 18 months of age, and subsequent regression of acquired motor and cognitive abilities. Overt impairments in cognition and motor function generally emerge within 1 to 2 years. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are responsible for over 90% of RTT cases. MECP2 is a nuclear protein that binds methylated DNA to modulate gene transcription. MECP2 gene duplications lead to MECP2 duplication syndrome (MDS), while MECP2 deficiency disrupts central nervous system maturation, adversely affecting learning and memory, culminating in the clinical manifestations of RTT.
Current therapeutic strategies for RTT primarily revolve around gene supplementation using adeno-associated virus (AAV) vectors to deliver functional human MECP2 genes to compensate for the endogenous deficiency. However, the substantial size of the MECP2 gene surpasses the packaging capacity of most viral vectors, and overexpression of MECP2 poses a risk of severe neurological complications. These challenges have significantly impeded the progress of gene supplementation therapies. Consequently, the focus has shifted towards DNA/RNA editing approaches aimed at correcting MECP2 mutations and restoring physiological levels of MECP2 protein expression. Notably, several research groups have successfully employed CRISPR-based gene editing technologies to rectify MECP2 mutations in induced pluripotent stem cells (iPSCs) or patient-derived cells ex vivo [1-2]. Given the pivotal role of animal models in preclinical research, the development of humanized mouse models expressing the human MECP2 gene is crucial. These models facilitate the transition of gene therapy candidates—encompassing small nucleic acids, CRISPR-based editors, base editors, and RNA editing technologies—into clinical stages [3-4].
This strain is a humanized MECP2 gene mouse model, generated by replacing the endogenous mouse Mecp2 gene with the human MECP2 gene harboring the T158M mutation through embryonic stem cell targeting techniques. This mutation represents the most common human RTT-associated missense mutation in MECP2. Studies have shown that mice carrying this mutation recapitulate many clinical features of RTT [5].
Clec11a-KO
製品ID :
S-KO-04204
系統:
C57BL/6JCya
状況:
説明:
Clec11a is located on chromosome 7 of mice. Nuclease Technology was used to design sgRNA; Clec11a knockout mice were obtained by applying high-throughput electroporation of fertilized eggs. After sexual maturity, sperm were collected for cryopreservation.
Clec11a is located on chromosome 7 of mice. Nuclease Technology was used to design sgRNA; Clec11a knockout mice were obtained by applying high-throughput electroporation of fertilized eggs. After sexual maturity, sperm were collected for cryopreservation.
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