Rpe65^450M
QTL Variant Detail

Summary

• QTL variant: Rpe65^450M
• Name: retinal pigment epithelium 65; 450 Methionine
• MGI ID: MGI:2680347
• Synonyms: Rpe65^C57BL/6J, Rpe65M, Rpe65^Met450, Rpe65^{Mord1-C57BL/6J}
• QTL: Rpe65 Location: Chr3:159304812-159330958 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 details: Sequencing of the Rpe65 gene of C57BL/6-Tyr^c-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)

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: 33 reference(s)