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Allele : Mc4r<M4Btlr> melanocortin 4 receptor; mutation 4, Bruce Beutler

Primary Identifier  MGI:6114074 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
molecularNote  ENU-induced A to T transversion at base pair 66,859,488 (v38) on chromosome 18, or base pair 1,000 in the GenBank genomic region NC_000084 for the gene. The mutation corresponds to residue 1000 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an isoleucine (I) to phenylalanine (F) substitution at position 185 (I185F) in the protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Big_boned,
  • Big_boned
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories