Rho^R3
Chemically induced Allele Detail

Summary

• Symbol: Rho^R3
• Name: rhodopsin; R3
• MGI ID: MGI:4367268
• Synonyms: Bemr3, rhodopsin C185R
• Gene: Rho Location: Chr6:115908709-115916997 bp, + strand Genetic Position: Chr6, 53.72 cM
• Alliance: Rho^R3 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, identified in a fundus screen of progeny of an ENU mutagenized male mouse, comprises a T to C transition at nucleotide position 553, in the third of the gene's 5 exons. This results in replacement of cysteine by arginine at amino acid 185 of the protein (C185R), in the extracellular, intradiscal loop E-II between transmembrane domains IV and V. The level of rhodopsin is reduced in the retinas of homozygous and, to a lesser extent, of heterozygous mutant mice. (J:153281)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Rho Mutation: 48 strains or lines available

References

• Original: J:153281 Liu H, et al., Severe retinal degeneration caused by a novel rhodopsin mutation. Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1059-65
• All: 2 reference(s)