huRHO-P23H/huRHO 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]. 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.