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Allele : Casp8<m1Btlr> caspase 8; mutation 1, Bruce Beutler

Primary Identifier  MGI:6113870 Allele Type  Chemically induced (ENU)
Attribute String  Modified isoform(s) Gene  Casp8
Inheritance Mode  Recessive 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 58,844,770 (GRCm38) on chromosome 1, or base pair 49,543 in the GenBank genomic region NC_000067 encoding caspase-8. The mutation corresponds to residue 1,628 in the mRNA sequence NM_009812, within 8 of 9 exons. The mutation results in a valine to alanine substitution at position 432 (V432A) in isoform 1.
  • mutations:
  • Single point mutation
  • synonyms:
  • amontillado,
  • amontillado
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories