OMIA 000374-495946 : Feather colour, extended black in Falco eleonorae

In other species: chicken , red-footed booby , black swan , Coscoroba swan , Bananaquit , helmeted guineafowl , gyrfalcon , Lesser snow goose , Arctic skua , , brown booby , zebra finch , ruff , rock pigeon , pomarine skua , king penguin

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

Molecular basis: Gangosa et al. (2011): "A 12 base pair in-frame deletion (Mc1r Δ12) corresponding to the following amino acids, methionine, aspartic acid, asparagine and valine at positions 114–117, were found in dark individuals, both in heterozygosis (dark heterozygous individuals) and in homozygosis (dark homozygous), whereas pale individuals were homozygous wild type."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Falco eleonorae - no genomic information (-..-) MC1R Ensembl

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Feather colour, extended black MC1R deletion, small (<=20) Naturally occurring variant p.(M114_V117del) 2011 21696477

Reference


2011 Gangoso, L., Grande, J.M., Ducrest, A.L., Figuerola, J., Bortolotti, G.R., Andrés, J.A., Roulin, A. :
MC1R-dependent, melanin-based colour polymorphism is associated with cell-mediated response in the Eleonora's falcon. J Evol Biol 24:2055-63, 2011. Pubmed reference: 21696477. DOI: 10.1111/j.1420-9101.2011.02336.x.

Edit History


  • Created by Imke Tammen2 on 10 Aug 2021
  • Changed by Imke Tammen2 on 10 Aug 2021