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| Nomenclature |
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Symbol:
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Opa1Q285X
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Name:
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optic atrophy 1;
Q285X
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MGI ID: |
MGI:3711758 |
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Synonyms: |
Opa1Q285STOP |
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Gene:
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Opa1
Location:
Chr16:29579334-29654884 bp, + strand
Genetic Position: Chr16,
20.65 cM, cytoband B2
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A C to T transition at 1051 bp resulted in the Q285stop substitution in exon 8, immediately before the central dynamin-GTPase. This mutation lead to ~50% reduction of protein in retina and all tissues in Western blot. (J:100122, J:121779)
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Inheritance: | |
Not Specified |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Opa1 Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:121779
Davies VJ et al.,
"Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function."
Hum Mol Genet 2007 Jun 1;16(11):1307-18
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All: |
5 reference(s)
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Analysis Tools
