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Rpe65450L
QTL Variant Detail
Nomenclature
QTL variant: Rpe65450L
Name: retinal pigment epithelium 65; 450 Leucine
MGI ID: MGI:3702572
Synonyms: Rpe65BALB/cByJ, Rpe65L, Rpe65Leu450
QTL: Rpe65  Location: Chr3:159599175-159625321 bp, + strand  Genetic Position: Chr3, 82.52 cM, cytoband H4
Variant
origin
Strain of Specimen:  BALB/cByJ
Variant
description
Allele Type:    QTL
Mutation:    Single point mutation
 
Mutation detailsSequencing of the Rpe65 gene of BALB/cByJ revealed a adenosine to cytosine polymorphism in codon 450, resulting in a methionine to leucine substitution (M450L). This variant is also found in the 129X1/SvJ strain. (J:62583)
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: 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:  29 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