OMIA:000201-37029 : Coat colour, agouti in Prionailurus bengalensis (leopard cat)

In other species: 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 , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , alpaca , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

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

Considered a defect: no

Key variant known: no

Key variant is published: no

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".

Species-specific description: Information relating to charcoal coat colour in Bengal cats (a cat breed originating from hybrid animals developed from crosses between the domestic cat (Felis silvestris catus) and the Asian leopard cat (Prionailurus bengalensis)) has been moved to 'OMIA:002549-9685 : Coat colour, charcoal, ASIP-related in Felis catus' [8/4/2022]

Molecular basis: Gershony et al. (2014): "The complete coding region of ASIP was directly sequenced in Asian leopard, domestic and Bengal cats. Twenty-seven variants were identified between domestic and leopard cats ... . The leopard cat ASIP haplotype was distinguished from domestic cat by four synonymous and four non-synonymous exonic SNPs, as well as 19 intronic variants, including a 42-bp deletion in intron 4."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Bengal (Cat) (VBO_0100040).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Prionailurus bengalensis A3 NC_057354.1 (24922185..24851230) ASIP Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000201-37029: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2014 Gershony, L.C., Penedo, M.C., Davis, B.W., Murphy, W.J., Helps, C.R., Lyons, L.A. :
Who's behind that mask and cape? The Asian leopard cat's Agouti (ASIP) allele likely affects coat colour phenotype in the Bengal cat breed. Anim Genet 45:893-897, 2014. Pubmed reference: 25143047. DOI: 10.1111/age.12206.

Edit History


  • Created by Frank Nicholas on 03 Oct 2014
  • Changed by Frank Nicholas on 03 Oct 2014
  • Changed by Imke Tammen2 on 08 Apr 2022
  • Changed by Imke Tammen2 on 08 Feb 2024