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 , llama , oldfield mouse
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (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: 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".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Peromyscus maniculatus||-||no genomic information (-..-)||ASIP||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|
|665||New Hampshire (Chicken)||Melanic (non-agouti)||ASIP||deletion, gross (>20)||Naturally occurring variant||"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|
|330||Alaska, United States of America (North American deer mouse)||Melanic (non-agouti)||ASIP||nonsense (stop-gain)||Naturally occurring variant||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 .|
- 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