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 , , , brown booby , zebra finch ,

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266300

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."

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
White plumage MC1R missense p.Met85Val 2004 15031505

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