B6-hRHO*P23H (Promoter)
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Basic Information
Model Name
B6-hRHO*P23H (Promoter)
Product ID
C001727
Gene Name
Background
C57BL/6JCya
Gene Alias
RP4; OPN2; CSNBAD1
Classification
Full-Gene Humanized Models,Ophthalmic Disease Models,Rare Disease Models
NCBI ID
Phenotype
Chromosome
3
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Note: When using this mouse strain in a publication, please cite “B6-hRHO*P23H (Promoter) mice (Catalog C001727) were purchased from Cyagen.”
Strain Description
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. 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. 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.
Application Area
Research on retinitis pigmentosa (RP)
Research on congenital stationary night blindness (CSNB)
Research on other retinal diseases
Validation Data