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| Nomenclature |
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Symbol:
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Rpe65rd12
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Name:
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retinal pigment epithelium 65;
retinal degeneration 12
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MGI ID: |
MGI:2388240 |
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Gene:
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Rpe65
Location:
Chr3:159599233-159624799 bp, + strand
Genetic Position: Chr3,
82.52 cM, cytoband H4
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Photoreceptor degeneration without exposure to bright light in Rpe65rd12/Rpe65rd12 RhoTvrm4/Rho+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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B6.A-H2-T18a/BoyEgJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
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 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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;():3670 (Abstr.)
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All: |
14 reference(s)
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Analysis Tools
