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RhoR3
Chemically induced Allele Detail
Nomenclature
Symbol: RhoR3
Name: rhodopsin; R3
MGI ID: MGI:4367268
Synonyms: Bemr3, rhodopsin C185R
Gene: Rho  Location: Chr6:115931748-115940036 bp, + strand  Genetic Position: Chr6, 53.72 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  13 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory