| Primary Identifier | MGI:3578528 | Allele Type | Chemically induced (ENU) |
| Gene | Opa1 | Inheritance Mode | Not Specified |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | ENU mutagenesis induced an A-to-G mutation in intron 19 (ENSMUST00000160597) or 20 (in ENSMUST00000038867) that creates a cryptic splice acceptor site. The aberrant splice site is employed in the production of the major processed transcripts from the mutant allele, which retain 6 bp of intronic sequence 5' of exon 20 (ENSMUST00000160597) or 21 (ENSMUST00000038867). This replaces the evolutionarily invariant tryptophan (W616 in UNIPROT:P58281-1, W634 in UNIPROT:H7BX01), in the highly conserved middle domain of the protein, with CysLeuArg. The mutant OPA1 protein is expressed and stable, but it is mislocalized to the cytosol instead of to the mitochondria. |
