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Allele : Impdh1<m1Btlr> inosine monophosphate dehydrogenase 1; mutation 1, Bruce Beutler

Primary Identifier  MGI:6113645 Allele Type  Chemically induced (ENU)
Attribute String  Modified isoform(s) Gene  Impdh1
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced C to T transition at base pair 29,204,632 (v38) on chromosome 6, or base pair 11,733 in the GenBank genomic region NC_000072. The mutation corresponds to residue 978 in the mRNA sequence NM_178666 within exon 8 of 14 total exons, and residue 1,144 in the mRNA sequences NM_001302933 and NM_001302934 in exon 8 of 14 total exons. The mutation results in substitution of glutamine (Q) 283 to a premature stop codon (Q283*) in isoform 3 of the protein and Q307* in isoform 1 and 2 of the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • steve,
  • steve
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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