OMIA:000374-495946 : Feather colour, extended black in Falco eleonorae (Eleonora's falcon)

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

Categories: Pigmentation phene

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

Links to MONDO diseases: No links.

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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.

OMIA Variant ID 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
1328 Feather colour, extended black MC1R deletion, small (<=20) Naturally occurring variant p.(M114_V117del) 2011 21696477

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000374-495946: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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