huRHO(2)-P23H/huRHO(2) Mouse

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).