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Allele : Ednrb<s-Btlr> endothelin receptor type B; piebald Bruce Beutler

Primary Identifier  MGI:5516429 Allele Type  Chemically induced (ENU)
Gene  Ednrb Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  The Ednrb mutation is a G to A transition at base pair 103820013 (v38) on Chromosome 14, or base pair 24,161 in the GenBank genomic region NC_000080 encoding Ednrb. Themutation corresponds to residue 1,337 in the mRNA sequence NM_007904.4(ENSMUST00000172237) within exon 6 of 7 total exons or residue 1,523 inthe mRNA sequence NM_001136061.2 (ENSMUST00000022718) within exon 7 of 8 total exons. The mutation results in a glycine (G) to aspartic acid (D) substitution at amino acid 371 in both endothelin receptor type B (ETBR) isoforms.
  • mutations:
  • Single point mutation
  • synonyms:
  • gus-gus,
  • gus-gus
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele