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Rpe65450M
QTL Variant Detail
Nomenclature
QTL variant: Rpe65450M
Name: retinal pigment epithelium 65; 450 Methionine
MGI ID: MGI:2680347
Synonyms: Rpe65C57BL/6J, Rpe65M, Rpe65Met450, Rpe65Mord1-C57BL/6J
QTL: Rpe65  Location: Chr3:159599175-159625321 bp, + strand  Genetic Position: Chr3, 82.52 cM, cytoband H4
Variant
origin
Strain of Specimen:  C57BL/6J
Variant
description
Allele Type:    QTL
Mutation:    Single point mutation
 
Mutation detailsSequencing of the Rpe65 gene of C57BL/6-Tyrc-2J/J revealed a cytosine to adenosine polymorphism in codon 450, resulting in a leucine to methionine substitution (L450M). Later studies show that this variant is presnt in all C57BL/6J mice. (J:62583, J:86186)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
References
Original:  J:62583 Danciger M, et al., A QTL on distal chromosome 3 that influences the severity of light-induced damage to mouse photoreceptors. Mamm Genome. 2000 Jun;11(6):422-7
All:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory