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 , Chestnut-bellied monarch , brown booby , zebra finch , ruff , rock pigeon , pomarine skua , king penguin , Mallard
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."
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 |
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