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OMIA:000201-10042 : Coat colour, agouti in Peromyscus maniculatus (North American deer mouse)

In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , rabbit , tassel-eared squirrel , Mongolian gerbil , meadow voles , domestic guinea pig , fallow deer , alpaca , leopard cat , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611742 (trait) , 600201 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: 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 4 NC_056011.1 (129627523..129642784) ASIP Homologene, Ensembl , NCBI gene

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
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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000201-10042: 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.

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