GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00000587
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Numida meleagris
Trait State in Taxon B
Numida meleagris
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
helmeted guineafowl
Synonyms
helmeted guineafowl; Numida meleagris (Linnaeus, 1758)
Rank
species
Lineage
Show more ... pnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Numididae; Numida
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
helmeted guineafowl
Synonyms
helmeted guineafowl; Numida meleagris (Linnaeus, 1758)
Rank
species
Lineage
Show more ... pnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Numididae; Numida
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
Phe256del
Experimental Evidence
Authors
Vidal O; Araguas RM; Fernández E; Heras S; Sanz N; Pla C
Abstract
We have characterized a deletion in the MC1R gene causing the loss of one amino acid (p.Phe256del), which is perfectly associated with melanism in guinea fowl (Numida meleagris). Co-segregation of the p.Phe256del with melanism was confirmed in 25 offspring born from a cross of two heterozygote birds; therefore we suggest that this mutation is responsible for the black phenotype. Interestingly, this is the first case of recessive melanism linked to MC1R.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
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