Opa1^tm1.1Csln
Targeted Allele Detail

Summary

• Symbol: Opa1^tm1.1Csln
• Name: OPA1, mitochondrial dynamin like GTPase; targeted mutation 1.1, Chyuan-Sheng Lin
• MGI ID: MGI:8308838
• Synonyms: Opa1^V291D
• Gene: Opa1 Location: Chr16:29398152-29473702 bp, + strand Genetic Position: Chr16, 20.65 cM, cytoband B2
• Alliance: Opa1^tm1.1Csln page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:381209
• Parent Cell Line: KV1 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Valine codon 291 (GTT) in exon 9 was changed to aspartic acid (GAT) (NM_133752.3:c.872T>A:p.V291D; alternatively, in exon 10, NM_001199177.1:c.926T>A:p.V309D) and a loxP site flanked neomycin resistance gene cassette was inserted in intron 9. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human NM_130837.3:c.1037T>A:p.V346D mutation associated with autosomal dominant optic atrophy (ADOA). In mutant mice a similar phenotype is observed. (J:381209)

Disease models

Expression

In Structures Affected by this Mutation:

3 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: 58 strains or lines available

References

• Original: J:381209 Kang EY, et al., Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy. Sci Adv. 2026 Feb 20;12(8):eadx7815
• All: 1 reference(s)