Rho (rhodopsin) encodes a G protein-coupled receptor found in rod cells and is required for vision in low light. Mutations in Rho are associated with retinitis pigmentosa (RP) and congenitial stationary night blindness. The ENU-induced dominant mutation, Tvrm1, was identified as tyrosine (TAC) to histidine (CAC) mutation at amino acid residue 102 (Y102H). Initial observation of mutant mice revealed a hypopigmented fundus. Under ambient light conditions, Tvrm1 heterozygotes do not exhibit photoreceptor cell loss or altered function, however, mice exposed to 12,000 lux for 30s exhibit photoreceptor degeneration. In addition, although phototransduction deactivation appears unaltered, recovery from high intensity bleaching is slowed as compared to wild-type mice. Expression of the Y012H mutation in COS cells results in constitutive activation of the phototransduction cascade. This strain may be useful for studying light-induced photoreceptor degeneration.

These ENU-induced Tvrm1 mice carry a dominant mutation (Y102H) in the Rho (rhodopsin) gene and exhibit light-induced photoreceptor degeneration.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.