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Allele : Dsg2<m2Btlr> desmoglein 2; mutation 2, Bruce Beutler

Primary Identifier  MGI:6283577 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Dsg2
Inheritance Mode  Other (see notes) Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  Inheritance is unknown/not applicable. https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3736
molecularNote  ENU-induced T to A transversion at base pair 20,582,939 (v38) on chromosome 18, or base pair 24,866 in the GenBank genomic region NC_000084 encoding Dsg2. The mutation corresponds to residue 1,057 in the mRNA sequence NM_007883 within exon 8 of 15 total exons. The mutation results in substitution of tyrosine 282 for a premature stop codon (Y282*) in the DSG2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • dysjunction,
  • dysjunction
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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