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Allele : Dsg2<m1Btlr> desmoglein 2; mutation 1, Bruce Beutler

Primary Identifier  MGI:6283557 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Dsg2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2959
molecularNote  ENU-induced T to A transversion at base pair 20,580,651 (v38) on chromosome 18, or base pair 22,578 in the GenBank genomic region NC_000084 encoding DSG2. The mutation corresponds to residue 889 in the mRNA sequence NM_007883 within exon 6 of 15 total exons. The mutation results in substitution of tyrosine 226 for a premature stop codon (Y226*) in the DSG2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • weg,
  • weg
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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