Opa1^Q285X
Chemically induced Allele Detail

Summary

• Symbol: Opa1^Q285X
• Name: OPA1, mitochondrial dynamin like GTPase; Q285X
• MGI ID: MGI:3711758
• Synonyms: Opa1^Q285STOP
• Gene: Opa1 Location: Chr16:29398152-29473702 bp, + strand Genetic Position: Chr16, 20.65 cM, cytoband B2
• Alliance: Opa1^Q285X page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• 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)
• Inheritance: Not Specified

Disease models

Expression

In Structures Affected by this Mutation:

4 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: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
• All: 12 reference(s)