OMIA:000201-9279 : Coat colour, agouti in Dasyurus viverrinus (southeastern quoll) |
In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , domestic horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , rabbit , tassel-eared squirrel , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , fallow deer , alpaca , leopard cat , oldfield mouse , Kodkod , Asiatic golden cat , Northern mole vole , Eurasian water mole , Colocolo
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611742 (trait) , 600201 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2025
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".
Molecular basis: Sauerman et al. (2025) investigated the melanistic morph of the eastern quoll: "In eastern quolls, we identify [an approximately 4.7 kb] deletion encompassing the ASIP start codon which was found to be homozygous only in the melanistic animals examined."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ASIP | Dasyurus viverrinus | - | no genomic information (-..-) | ASIP | Ensembl |
Variants
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1847 | Coat colour, melanistic | ASIP | deletion, gross (>20) | start-lost | Naturally occurring variant | Not currently evaluated | DasViv_v1.0 | 2 | 4.7 kb deletion encompassing the first two coding exons | 2025 | 41119986 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:000201-9279: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Sauermann, R., Fancourt, B., Faulkner, T., Shute, H., Reid, D., Pask, A.J., Feigin, C.Y. : |
| Loss-of-function mutations in ASIP and MC1R are associated with coat colour variation in marsupials. Biol Lett 21:20250302, 2025. Pubmed reference: 41119986. DOI: 10.1098/rsbl.2025.0302. |
Edit History
- Created by Imke Tammen2 on 23 Oct 2025