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| Nomenclature |
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Symbol:
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Opa3m1Votr
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Name:
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optic atrophy 3;
mutation 1, Marcela Votruba
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MGI ID: |
MGI:5312669 |
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Synonyms: |
opa3L122P |
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Gene:
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Opa3
Location:
Chr7:19228334-19256543 bp, + strand
Genetic Position: Chr7,
9.48 cM
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Mutation
origin |
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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: ENU mutagenesis induced a T to C transition in exon 2 that results in the amino acid substitution of proline for leucine at position 122. This mutation is predicted to alter the tertiary structure. (J:181670)
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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 Opa3 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:181670
Davies VJ et al.,
"A missense mutation in the murine Opa3 gene models human Costeff syndrome."
Brain 2008 Feb;131(Pt 2):368-80
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All: |
3 reference(s)
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Analysis Tools
