OMIA 000201-10042 : Coat colour, agouti in Peromyscus maniculatus

In other species: horse , cattle , meadow voles , red fox , pig , sheep , domestic cat , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2009

Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus. As explained by Schneider et al. (PLoS Genet 10(2): e1004892; 2015), "The most common causes of melanism (black coat) mutations are gain-of-function alterations in MC1R, or loss-of function alterations in ASIP, which encodes Agouti signaling protein, a paracrine signaling molecule that inhibits MC1R signaling".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Peromyscus maniculatus - no genomic information (-..-) ASIP Ensembl


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
New Hampshire Melanic (non-agouti) ASIP deletion, gross (>20) "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
Alaska Melanic (non-agouti) ASIP nonsense (stop-gain) c.193?>? p.(Q65*) 2009 19649329


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.
2009 Kingsley, E.P., Manceau, M., Wiley, C.D., Hoekstra, H.E. :
Melanism in peromyscus is caused by independent mutations in agouti. PLoS One 4:e6435, 2009. Pubmed reference: 19649329. DOI: 10.1371/journal.pone.0006435.
1981 Robinson, R. :
The agouti alleles of Peromyscus. J Hered 72:132, 1981. Pubmed reference: 7276515.
1980 Horner, B.E., Potter, G.L., Van Ooteghem, S. :
A new black coat colour mutation in Peromyscus Journal of Heredity 71:49-51, 1980.
1971 Egoscue, H.J. :
Nonagouti, a new recessive color mutation in deer mice. J Hered 62:372, 1971. Pubmed reference: 5137683.

Edit History

  • Created by Frank Nicholas on 24 Oct 2011
  • Changed by Frank Nicholas on 24 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012