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| Nomenclature |
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Symbol:
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RhoR3
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Name:
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rhodopsin;
R3
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MGI ID: |
MGI:4367268 |
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Synonyms: |
Bemr3, rhodopsin C185R |
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Gene:
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Rho
Location:
Chr6:115931927-115938829 bp, + strand
Genetic Position: Chr6,
53.72 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Rho Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:153281
Liu H et al.,
"A Novel Rhodopsin Mutation Causes Severe Retinal Degeneration."
Invest Ophthalmol Vis Sci 2009 Sep 9;():
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All: |
1 reference(s)
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Analysis Tools
