Opa1^M1Bewi
Chemically induced Allele Detail

Summary

• Symbol: Opa1^M1Bewi
• Name: OPA1, mitochondrial dynamin like GTPase; mutation 1, Bernd Wissinger
• MGI ID: MGI:4412032
• Synonyms: Opa1^329-355del, Opa1^enu
• Gene: Opa1 Location: Chr16:29398152-29473702 bp, + strand Genetic Position: Chr16, 20.65 cM, cytoband B2
• Alliance: Opa1^M1Bewi page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a G to A transition in intron 10 (c.1065+5 G->A) that disrupts the splicing and produce a transcript that lacks the 27 amino acids. These amino acids are coded by exon 10 and are an integral part of the GTPase domain. Western blot did not detect a protein product produced from this allele and a 50% reduction in endogenous protein levels in heterozygous mice. (J:154966)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Opa1 Mutation: 56 strains or lines available

References

• Original: J:154966 Alavi MV, et al., A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain. 2007 Apr;130(Pt 4):1029-42
• All: 9 reference(s)