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Allele : Mc4r<m2Btlr> melanocortin 4 receptor; mutation 2, Bruce Beutler

Primary Identifier  MGI:5619128 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
molecularNote  ENU mutagenesis induced a T to A transversion at base pair 66,859,847 (v38) on chromosome 18, or base pair 641 in the GenBank genomic region NC_000084 encoding Mc4r. The mutation corresponds to residue 641 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in a valine (V) to glutamic acid (E) substitution at position 65 (V65E) in the MC4R protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • chubby,
  • chubby
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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