huRHO(2) Mouse
製品名
huRHO(2) Mouse
製品ID
C001646
系統名
C57BL/6JCya-Rhotm3(hRHO)/Cya
背景情報
C57BL/6JCya
状況
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製品タイプ
年齢
遺伝子型
性別
数量
遺伝子名
遺伝子別名
RP4, OPN2, CSNBAD1
NCBI ID
染色体
Chr 3
MGI ID
さらに
系統詳細
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) [2-4]. 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 [5-10].
This strain is a mouse Rho gene humanized model, in which the mouse Rho gene is replaced by the human RHO gene. The protein encoded by the human gene is normally expressed in the mouse. Therefore, the structure and function of the retina of this model are identical to those of wild-type mice, and there is no visual defect. This model can be used to study visual signaling and retinitis pigmentosa (RP). Based on the self-developed technological innovation of TurboKnockout fusion BAC recombination, Cyagen can also provide popular point mutation disease models constructed based on this model. The data shows that huRHO-P23H mice carrying a human RHO pathogenic mutation constructed based on huRHO mice exhibit a distinct retinal abnormal phenotype. Additionally, Cyagen can 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.
参考文献
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006). Retinitis pigmentosa. The Lancet, 368(9549), 1795-1809.
Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., ... & Berson, E. L. (1990). A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343(6256), 364-366.
Zhang, X., Fu, W., Pang, C. P., & Yeung, K. Y. (2002). Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa. Zhonghua yi xue yi Chuan xue za zhi= Zhonghua Yixue Yichuanxue Zazhi= Chinese Journal of Medical Genetics, 19(6), 463-466.
Gamundi, M. J., Hernan, I., Muntanyola, M., Maseras, M., López‐Romero, P., Alvarez, R., ... & Carballo, M. (2008). Transcriptional expression of cis‐acting and trans‐acting splicing mutations cause autosomal dominant retinitis pigmentosa. Human mutation, 29(6), 869-878.
Biasutto, P., Adamson, P. S., Dulla, K., Murray, S., Monia, B., & McCaleb, M. (2019). Allele specific knock-down of human P23H rhodopsin mRNA and prevention of retinal degeneration in humanized P23H rhodopsin knock-in mouse, following treatment with an intravitreal GAPmer antisense oligonucleotide (QR-1123). Investigative Ophthalmology & Visual Science, 60(9), 5719-5719.
Editas Medicine, Inc. (2022, October 13). Press Release: Editas Medicine Presents Preclinical Data On EDIT-103 For Rhodopsin-Associated Autosomal Dominant Retinitis Pigmentosa At The European Society Of Gene And Cell Therapy Annual Meeting. Editasmedicine. https://ir.editasmedicine.com/news-releases/news-release-details/editas-medicine-presents-preclinical-data-edit-103-rhodopsin-0.
Patrizi, C., Llado, M., Benati, D., Iodice, C., Marrocco, E., Guarascio, R., ... & Recchia, A. (2021). Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model. The American Journal of Human Genetics, 108(2), 295-308.
Li, P., Kleinstiver, B. P., Leon, M. Y., Prew, M. S., Navarro-Gomez, D., Greenwald, S. H., ... & Liu, Q. (2018). Allele-specific CRISPR-Cas9 genome editing of the single-base P23H mutation for rhodopsin-associated dominant retinitis pigmentosa. The CRISPR journal, 1(1), 55-64.
Liu, X., Jia, R., Meng, X., Li, Y., & Yang, L. (2022). Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter. Experimental Eye Research, 215, 108893.
Wu, W. H., Tsai, Y. T., Huang, I. W., Cheng, C. H., Hsu, C. W., Cui, X., ... & Tsang, S. H. (2022). CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa. Molecular Therapy, 30(4), 1407-1420.
系統作製戦略
Figure 1. Gene editing strategy of huRHO(2) mice. The sequences from upstream of the 5'UTR to downstream of the 3'UTR of mouse Rho were replaced with the sequences from upstream of the 5'UTR to downstream of the 3'UTR of human RHO.
適用分野
Research on retinitis pigmentosa (RP);
Research on congenital stationary night blindness (CSNB);
Research on other retinal diseases.
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