OMIA:000202-8296 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Ambystoma mexicanum (axolotl) |
In other species: Japanese medaka , 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 , 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: yes
Key variant known: yes
Year key variant first reported: 2017
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: Information listed here was previously shown as "Coat colour, albinism, generic OMIA:002280-8296".
Mapping: Woodcock et al. (2017) "mapped the albino locus to tyrosinase (tyr) and identified polymorphisms shared between the albino allele (tyr a ) and tyr alleles in a Minnesota population of tiger salamanders from which the albino trait was introgressed."
Molecular basis: Woodcock et al. (2017) "tyr a has a 142 bp deletion and similar engineered alleles recapitulated the albino phenotype."
Genetic engineering:
Yes - in addition to the occurrence of natural variants, 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 | Ambystoma mexicanum | 7q | NC_090941.1 (885702858..885526923) | TYR | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1746 | Skin colour, albino | TYR | deletion, gross (>20) | Naturally occurring variant | Linkage group 7 | "a 142 bp deletion of tyr a coding sequence at the end of exon 1 (extending ~3 kb in to intron 1) that results in a frame-shift and premature stop codon" (Woodcock et al., 2017) | 2017 | 28127056 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000202-8296: 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.
| 2017 | Woodcock, M.R., Vaughn-Wolfe, J., Elias, A., Kump, D.K., Kendall, K.D., Timoshevskaya, N., Timoshevskiy, V., Perry, D.W., Smith, J.J., Spiewak, J.E., Parichy, D.M., Voss, S.R. : |
| Identification of mutant genes and introgressed Tiger salamander DNA in the laboratory axolotl, Ambystoma mexicanum. Sci Rep 7:6, 2017. Pubmed reference: 28127056. DOI: 10.1038/s41598-017-00059-1. | |
| 1978 | Harsa-King, M.L. : |
| Experimental studies on a mutant gene, a, causing albinism in the axolotl, Ambystoma mexicanum. Dev Biol 62:370-88, 1978. Pubmed reference: 414944. DOI: 10.1016/0012-1606(78)90223-3. | |
| 1967 | Humphrey, R.R. : |
| Albino axolotls from an albino tiger salamander through hybridization. J Hered 58:95-101, 1967. Pubmed reference: 6055330. DOI: 10.1093/oxfordjournals.jhered.a107572. |
Edit History
- Created by Frank Nicholas on 24 Jun 2020
- Changed by Imke Tammen2 on 30 Sep 2024