OMIA:002130-9823 : Oculocutaneous albinism, OCA2-related in Sus scrofa (pig) |
In other species: Mexican tetra , guppy , green swordtail , Japanese medaka , Rhesus monkey , dog , corn snake
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203200 (trait) , 611409 (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: 2019
Cross-species summary: Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Renamed from 'Coat colour, oculocutaneous albinism, OCA2-related' [07/09/2024]
Species summary: Information about pink-eyed dilution in pigs was previously listed in OMIA as OMIA:000212-9823 : Coat colour, pink-eyed dilution in Sus scrofa (pig). The information has been moved to this entry as the causal variant is in OCA2.
Species-specific name: pink-eyed dilution
Molecular basis: Zhang et al. (2019) "identified [in an ethylnitrosourea (ENU) mutagenesis program] a first pig model of OCA2 resulted from the S743L mutation in the OCA2 gene. Furthermore, the S743L mutation, which is orthologous to the human S736L mutation, results solely in pigmentation-related defects without other apparent abnormities similar to those observed in OCA2 patients." This study involves gene edited or genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Zhang et al. (2019) created in an ENU mutagenesis program pigs with two-end diluted brown coat color with pink eyes.
Breed:
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| OCA2 | OCA2 melanosomal transmembrane protein | Sus scrofa | 15 | NC_010457.5 (56657648..56869920) | OCA2 | Ensembl, NCBI gene |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1749 | Bama Xiang Zhu, China (Pig) | Albinism, oculocutaneous, type II | OCA2 | substitution | missense | Chemical mutagenesis (ENU) | Not currently evaluated | Sscrofa11.1 | 15 | NC_010457.5:g.56825733C>T | NM_214094.2:c.2228 C>T | NP_999259.2:p.(S743L) | 2019 | 31636960 |
* 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
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002130-9823: 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.
| 2019 | Zhang, Y., Hong, Q., Cao, C., Yang, L., Li, Y., Hai, T., Zhang, H., Zhou, Q., Sui, R., Zhao, J. : |
| A novel porcine model reproduces human oculocutaneous albinism type II. Cell Discov 5:48, 2019. Pubmed reference: 31636960. DOI: 10.1038/s41421-019-0117-7. | |
| 2002 | Fernandez, A., Castellanos, C., Rodriguez, C., Noguera, J.L., Sanchez, A., Ovilo, C. : |
| Physical and linkage mapping of the porcine pink-eye dilution gene (OCA2) Animal Genetics 33:392-394, 2002. Pubmed reference: 12354157. |
Edit History
- Created by Imke Tammen2 on 15 Oct 2024
- Changed by Imke Tammen2 on 15 Oct 2024