Opa1^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: Opa1^tm1.1Geno
• Name: OPA1, mitochondrial dynamin like GTPase; targeted mutation 1.1, Genoway
• MGI ID: MGI:6117138
• Synonyms: Opa1^-, Opa1^delTTAG
• Gene: Opa1 Location: Chr16:29398152-29473702 bp, + strand Genetic Position: Chr16, 20.65 cM, cytoband B2
• Alliance: Opa1^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237963
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 27 was replaced with a modified exon 27 in which the four conserved TTAG base pairs were deleted (corresponding to the c.2708_2711delTTAG mutation described in patients with dominant optic atrophy) and a loxP-flanked neomycin cassette was inserted between exon 25 and 26. The neomycin cassette was removed via Cre-mediated recombination. This deletion results in a frame shift, leading to the loss of the last 58 amino acids of all isoforms. (J:237963)

Disease models

Expression

In Structures Affected by this Mutation:

7 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: 54 strains or lines available

References

• Original: J:237963 Sarzi E, et al., The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain. 2012 Dec;135(Pt 12):3599-613
• All: 5 reference(s)