OMIA 000201-10141 : Coat colour, agouti in Cavia porcellus

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 , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , 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 Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2019

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".

Inheritance: Lai et al. (2019) reported that their "results are consistent with the autosomal recessive mode of inheritance of the black‐coat‐colour phenotype in guinea pigs".

Molecular basis: Lai et al. (2019) discovered a "4‐bp deletion (c.181_184delTTCA) in exon 3 of ASIP gene [that] is completely associated with the black coat colour in guinea pigs." This deletion "leads to a truncated protein of 77 amino acids due to the premature stop codon."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Asip agouti signaling protein Cavia porcellus - no genomic information (-..-) Asip Homologene, Ensembl, NCBI gene


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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.

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
Recessive black Asip deletion, small (<=20) c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725


2019 Lai, W., Hu, M., Zhu, W., Yu, F., Bai, C., Zhang, J., Yan, S. :
A 4-bp deletion in the ASIP gene is associated with the recessive black coat colour in domestic guinea pigs (Cavia porcellus). Anim Genet 50:190-191, 2019. Pubmed reference: 30746725. DOI: 10.1111/age.12766.

Edit History

  • Created by Frank Nicholas on 21 Sep 2019
  • Changed by Frank Nicholas on 21 Sep 2019