Opa3^m1Votr
Chemically induced Allele Detail

Summary

• Symbol: Opa3^m1Votr
• Name: optic atrophy 3; mutation 1, Marcela Votruba
• MGI ID: MGI:5312669
• Synonyms: opa3^L122P
• Gene: Opa3 Location: Chr7:18962314-18980742 bp, + strand Genetic Position: Chr7, 9.48 cM
• Alliance: Opa3^m1Votr page

Mutation origin

• Strain of Origin: C3H

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	27 assay results
In Structures Affected by this Mutation:	22 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)