OMIA:000374-70340 : Feather colour, extended black in Anser caerulescens caerulescens (Lesser snow goose) |
In other species: Mallard , Coscoroba swan , black swan , rock pigeon , helmeted guineafowl , chicken , king penguin , Arctic skua , pomarine skua , barn owl , brown booby , red-footed booby , zebra finch , Bananaquit , gyrfalcon , ruff , Oriental honey-buzzard , Chestnut-bellied monarch , Eleonora's falcon
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 266300 (trait) , 155555 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: 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."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MC1R | Anser caerulescens caerulescens | - | no genomic information (-..-) | MC1R | Ensembl |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1101 | Blue plumage | MC1R | missense | Naturally occurring variant | p.(V85M) | 2004 | 15031505 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:000374-70340: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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. |
Edit History
- 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