Rpe65rd12
Spontaneous Allele Detail
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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
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Alliance: |
Rpe65rd12 page
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Photoreceptor degeneration without exposure to bright light in Rpe65rd12/Rpe65rd12 RhoTvrm4/Rho+ mice
Show the 1 phenotype image(s) involving this allele.
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Allele Type: |
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Spontaneous |
Mutation: |
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Single point mutation
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Mutation details: This 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)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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: |
32 reference(s) |
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