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Allele : Mc4r<M6Btlr> melanocortin 4 receptor; mutation 6, Bruce Beutler

Primary Identifier  MGI:6304420 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Mc4r
Inheritance Mode  Semidominant 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=4169
molecularNote  ENU-induced A to T transversion at base pair 66,859,856 (v38) on chromosome 18, or base pair 632 in the GenBank genomic region NC_000084 for the Mc4r gene. The mutation corresponds to residue 632 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an asparagine to isoleucine substitution at position 62 (N62I) in the MC4R protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Big_mac,
  • Big_mac
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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