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Opa3m1Votr
Chemically induced Allele Detail
Summary
Symbol: Opa3m1Votr
Name: optic atrophy 3; mutation 1, Marcela Votruba
MGI ID: MGI:5312669
Synonyms: opa3L122P
Gene: Opa3  Location: Chr7:18962314-18980742 bp, + strand  Genetic Position: Chr7, 9.48 cM
Alliance: Opa3m1Votr page
Mutation
origin
Strain of Origin:  C3H
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 27 assay results
In Structures Affected by this Mutation: 23 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Opa3 Mutation:  15 strains or lines available
References
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
All:  5 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
03/12/2024
MGI 6.23
The Jackson Laboratory