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Allele : Mc4r<m7Btlr> melanocortin 4 receptor; mutation 7, Bruce Beutler

Primary Identifier  MGI:6305820 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Mc4r
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4409
molecularNote  T to C transition at base pair 66,859,182 (v38) on chromosome 18, or base pair 1,306 in the GenBank genomic region NC_000084 for the Mc4r gene. The mutation corresponds to residue 1,306 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in a tyrosine to histidine substitution at position 287 (Y287H) in the MC4R protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • blubbery,
  • blubbery
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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