GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000587
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Numida meleagris
Trait State in Taxon B
Numida meleagris
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
helmeted guineafowl
Synonyms
helmeted guineafowl; Numida meleagris (Linnaeus, 1758)
Rank
species
Lineage
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pnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Numididae; Numida
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
helmeted guineafowl
Synonyms
helmeted guineafowl; Numida meleagris (Linnaeus, 1758)
Rank
species
Lineage
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pnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Numididae; Numida
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
String
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO:0008528 : G protein-coupled peptide receptor activity
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GO - Biological Process
GO:0007275 : multicellular organism development
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GO - Cellular Component
GO:0005886 : plasma membrane
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Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
Phe256del
Experimental Evidence
Main Reference
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.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000374/8996/
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