Opa1^lilr3
Chemically induced Allele Detail

Summary

• Symbol: Opa1^lilr3
• Name: OPA1, mitochondrial dynamin like GTPase; lilr3
• MGI ID: MGI:3578528
• Gene: Opa1 Location: Chr16:29398152-29473702 bp, + strand Genetic Position: Chr16, 20.65 cM, cytoband B2
• Alliance: Opa1^lilr3 page

Craniofacial defects, hemorrhaging and abnormal somite development in Opa1^lilr3/Opa1^lilr3 embryos

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:162916)
• Inheritance: Not Specified

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Opa1 Mutation: 54 strains or lines available

References

• Original: J:98216 Garcia-Garcia MJ, et al., Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5913-9
• All: 2 reference(s)