OMIA:000202-1960652 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Notamacropus rufogriseus (red-necked wallaby) |
In other species: Japanese medaka , axolotl , marine toad , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , thirteen-lined ground squirrel , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Rice frog , Japanese raccoon dog
Categories: Pigmentation phene , Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2022
Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern.
Species summary: See also 'OMIA:002280-1960652 : Coat colour, albinism, generic in Notamacropus rufogriseus (red-necked wallaby)'. The albino animals reported by Guillery et al. (1999) were also suspected to have a TYR variant. [IT thanks Emma Faull for contributions to this entry in September 2025]
Species-specific name: Albino
Molecular basis: Hayashi et al. (2022): "PCR and sequencing analyses of [the functional candidate gene] TYR ... of this albino wallaby revealed a 7.1-kb-long DNA fragment inserted in the first exon." The albino animal was homozygous for the insertion.
Clinical features: Hayashi et al. (2022) reported a red-necked wallaby with oculocutaneous albinism: red eyes and white hair and pinkish skin.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TYR | tyrosinase | Macropus rufogriseus | - | no genomic information (-..-) | TYR | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1829 | Albinism, oculocutaneous | TYR | insertion, gross (>20) | Naturally occurring variant | Not currently evaluated | 2022 | 35030050 |
* 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:000202-1960652: 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.
| 2022 | Hayashi, S., Shimizu, K., Honda, Y., Katsura, Y., Koga, A. : |
| An endogenous retrovirus presumed to have been endogenized or relocated recently in a marsupial, the red-necked wallaby. Genome 65:277-286, 2022. Pubmed reference: 35030050. DOI: 10.1139/gen-2021-0047. | |
| 1999 | Guillery, R.W., Jeffery, G., Saunders, N. : |
| Visual abnormalities in albino wallabies: a brief note. J Comp Neurol 403:33-8, 1999. Pubmed reference: 10075441. |
Edit History
- Created by Imke Tammen2 on 08 Sep 2025
- Changed by Imke Tammen2 on 08 Sep 2025
- Changed by Imke Tammen2 on 22 Oct 2025