OMIA:000374-70340 : Feather colour, extended black in Anser caerulescens caerulescens
In other species: chicken , red-footed booby , black swan , Coscoroba swan , Bananaquit , helmeted guineafowl , gyrfalcon , Arctic skua , Chestnut-bellied monarch , brown booby , zebra finch , ruff , rock pigeon , Eleonora's falcon , 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
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2004
Molecular basis: Mundy et al. (2004): "A nonsynonymous point substitution (Val85>Met85) in the MC1R gene was perfectly associated with the blue phenotype throughout the entire range of lesser snow geese across North America . . . . All blue geese sampled (N = 91) were heterozygous or homozygous for the Met85 allele, whereas all white geese (N = 116), were homozygous for the Val85 allele."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Anser caerulescens caerulescens||-||no genomic information (-..-)||MC1R||Ensembl|
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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|
|1101||Blue plumage||MC1R||missense||Naturally occurring variant||p.(V85M)||2004||15031505|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2005||Mundy, N.I. :|
|A window on the genetics of evolution: MC1R and plumage colouration in birds. Proc Biol Sci 272:1633-40, 2005. Pubmed reference: 16087416 . DOI: 10.1098/rspb.2005.3107.|
|2004||Mundy, N.I., Badcock, N.S., Hart, T., Scribner, K., Janssen, K., Nadeau, N.J. :|
|Conserved genetic basis of a quantitative plumage trait involved in mate choice. Science 303:1870-3, 2004. Pubmed reference: 15031505 . DOI: 10.1126/science.1093834.|
- Created by Frank Nicholas on 06 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Frank Nicholas on 13 Sep 2019