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Allele : Slc26a4<m2Btlr> solute carrier family 26, member 4; mutation 2, Bruce Beutler

Primary Identifier  MGI:5806435 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Slc26a4
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to A transversion at base pair 31,525,568 (v38) on chromosome 12, or base pair 35,072 in the GenBank genomic region NC_000078. The mutation corresponds to residue 2,333 in the mRNA sequence NM_011867 within exon 19 of 21 total exons. The mutation results in substitution of cysteine (C) 706 to a premature stop codon in the pendrin protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • cul-de-sac,
  • cul-de-sac
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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