Diaph1^M2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Diaph1^M2Btlr
• Name: diaphanous related formin 1; mutation 2, Bruce Beutler
• MGI ID: MGI:6113366
• Synonyms: Sheer
• Gene: Diaph1 Location: Chr18:37976654-38068529 bp, - strand Genetic Position: Chr18, 19.71 cM
• Alliance: Diaph1^M2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 37,896,093 (v38) on chromosome 18, or base pair 39,542 in the GenBank genomic region NC_000084 within the donor splice site of intron 11. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 119-nucleotide exon 11 (out of 28 total exons). Skipping of exon 11 would cause a frame-shifted protein product after amino acid 348 and premature termination after amino acid 348. (J:254819)
• Inheritance: Semidominant

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 Diaph1 Mutation: 116 strains or lines available

References

• Original: J:254819 Choi JH, et al., Mutagenetix entry for Sheer. MGI Direct Data Submission. 2018
• All: 1 reference(s)