Rpe65^450L
QTL Variant Detail

Summary

• QTL variant: Rpe65^450L
• Name: retinal pigment epithelium 65; 450 Leucine
• MGI ID: MGI:3702572
• Synonyms: Rpe65^BALB/cByJ, Rpe65L, Rpe65Leu450
• QTL: Rpe65 Location: Chr3:159304812-159330958 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 details: Sequencing 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 41 reference(s)