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Spontaneous Allele Detail
Symbol: Rpe65rd12
Name: retinal pigment epithelium 65; retinal degeneration 12
MGI ID: MGI:2388240
Gene: Rpe65  Location: Chr3:159599175-159625321 bp, + strand  Genetic Position: Chr3, 82.52 cM, cytoband H4
Photoreceptor degeneration without exposure to bright light in Rpe65rd12/Rpe65rd12 RhoTvrm4/Rho+ mice

Show the 1 phenotype image(s) involving this allele.

Strain of Origin:  B6.A-H2-T18a/BoyEgJ
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThis spontaneous mutation was discovered during a routine strain screen at The Jackson Laboratory. Its mapping location suggested it might be an allele of Rpe65, and a point mutation was identified in the Rpe65 gene. The mutation is a base substitution C to T at position 130 resulting in a stop codon at amino acid 44. Immunostaining revealed that mutant eyes do not express RPE65 protein, and subretinal injection of the AAV5-CBA viral vector expressing human RPE65 significantly rescued the visual phenotype for at least 7 months following treatment. (J:94549)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Rpe65 Mutation:  24 strains or lines available
Original:  J:94549 Chang B, et al., A point mutation in the Rpe65 gene causes retinal degeneration (rd12) in mice. (The Association for Research in Vision & Ophthalmology Annual Meeting Abstract). Invest Ophthalmol Vis Sci. 2002;:3670 (Abstr.)
All:  20 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory