OMIA:000202-9823 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Sus scrofa (pig) |
In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog
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)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: no
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-specific description: There are no reports of albinism occurring naturally in pigs. This entry has been created because albino pigs have been produced by knocking out the TYR gene, using CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer (Zhou et al., 2015): Genetically-modifed or engineered organism; GMO
Molecular basis: Zhou et al. (2015) "applied Cas9/sgRNAs to effectively direct gene editing in porcine fetal fibroblasts and then mutant cell colonies were used as donor to generate homozygous gene-targeted pigs through single round of SCNT. As a result, . . [they] successfully obtained 15 tyrosinase (TYR) biallelic mutant pigs. . . . They were all homozygous and no off-target mutagenesis was detected by comprehensive analysis. TYR (-/-) pigs showed typical albinism".
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
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TYR | tyrosinase | Sus scrofa | 9 | NC_010451.4 (22517047..22604290) | TYR | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-9823: 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.
2021 | Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. : |
The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928. DOI: 10.1016/j.jgg.2021.03.015. | |
2015 | Zhou, X., Xin, J., Fan, N., Zou, Q., Huang, J., Ouyang, Z., Zhao, Y., Zhao, B., Liu, Z., Lai, S., Yi, X., Guo, L., Esteban, M.A., Zeng, Y., Yang, H., Lai, L. : |
Generation of CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer. Cell Mol Life Sci 72:1175-84, 2015. Pubmed reference: 25274063. DOI: 10.1007/s00018-014-1744-7. |
Edit History
- Created by Frank Nicholas on 24 Apr 2015
- Changed by Frank Nicholas on 24 Apr 2015
- Changed by Frank Nicholas on 08 Aug 2017
- Changed by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 10 Dec 2023