You are here: OMIA / Search / OMIA:001821 / ass (donkey)

OMIA:001821-9793 : Coat colour, albinism, oculocutaneous type IV in Equus asinus (ass (donkey))

In other species: Japanese medaka , western gorilla , dog , taurine cattle , sheep

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: unknown

Key variant known: yes

Year key variant first reported: 2025

Species-specific name: Coat colour, cream dilution

Inheritance:  Ludwig et al. (2025): "Family studies [in Baroque donkeys] produced evidence for an autosomal recessive mode of inheritance."

Molecular basis: Ludwig et al. (2025) sequenced the candidate gene SLC45A2 in Baroque donkey's with a cream coat colour and identified a likely causal variant: c.1457C>T; p.Ala486Val (omia.variant:1855). The authors commented "Since the coat color in Baroque donkeys varies from almost white to gold, the question remains whether the base coloration, which in mammals is regulated by the ASIP and MC1R genes, also have an impact but no remarkable mutations were found in Baroque donkeys."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45 member 2 Equus asinus 10 NC_091799.1 (81763109..81800185) SLC45A2 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 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
1855 Coat colour, cream dilution SLC45A2 substitution missense Naturally occurring variant Not currently evaluated EquAss-T2T_v2 10 NC_091799.1:g.81796057C>T XM_014831209.3:c.1601C>T XP_014686695.1:p.(A534V) published as c.1457C>T, p.A486V 2025 41314234

* 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

Download table as CSV

Contact us

If you notice anything missing or in need of change, please contact us at: [email protected].

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:001821-9793: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2025 Ludwig, A., Biermann, R., Frölich, K., Jandowsky, A., Langner, C., Lieckfeldt, D., Tschann, K., Reissmann, M. :
A SLC45A2 mutation is strongly associated with the cream dilution in Baroque donkeys. Tierarztl Prax Ausg G Grosstiere Nutztiere 53:372-378, 2025. Pubmed reference: 41314234. DOI: 10.1055/a-2712-8607.

Edit History


  • Created by Imke Tammen2 on 02 Dec 2025