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Allele : Diaph1<M1Btlr> diaphanous related formin 1; mutation 1, Bruce Beutler

Primary Identifier  MGI:6113373 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Diaph1
Inheritance Mode  Semidominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to C transition 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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Guangzhou,
  • Guangzhou
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele