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Spontaneous Allele Detail
Symbol: Rpe65rd12
Name: retinal pigment epithelium 65; retinal degeneration 12
MGI ID: MGI:2388240
Gene: Rpe65  Location: Chr3:159304812-159330958 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 coding nucleotide 130 resulting in a stop codon in stead of arginine at position 44 (p.R44*). 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
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
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:  32 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;43(13):3670
All:  29 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory