OMIA:002817-8296 : Skin colour, TYRP1-related in Ambystoma mexicanum (axolotl) |
In other species: toad-headed agama
Categories: Pigmentation phene , Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 115501 (gene) , 612271 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Copper
Molecular basis: Cecil et al. (2024) investigate the copper pigmentation phenotype - an albino-like phenotype in pet axolotls. The authors "identified a single nucleotide deletion that is predicted to change the coding frame, introduce a premature stop codon in exon 6 and yield a truncated Tyrp1 protein in copper individuals. Using CRISPR-Cas9 editing, we show that wildtype Tyrp1 crispants exhibit copper pigmentation, thus confirming Tyrp1 as the copper locus."
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 |
|---|---|---|---|---|---|---|
| TYRP1 | Ambystoma mexicanum | 6p | NC_090935.1 (1296032120..1296040713) | TYRP1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1745 | Skin colour, copper | TYRP1 | deletion, small (<=20) | Naturally occurring variant | 6p | g.1225541490del | c.1156del | p.(G388Efs*28) | 2024 | 39333770 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002817-8296: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Cecil, R.F., Strohl, L., Thomas, M.K., Schwartz, J.L., Timoshevskaya, N., Smith, J.J., Voss, S.R. : |
| Tyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant. Sci Rep 14:22399, 2024. Pubmed reference: 39333770. DOI: 10.1038/s41598-024-73283-1. |
Edit History
- Created by Imke Tammen2 on 30 Sep 2024
- Changed by Imke Tammen2 on 30 Sep 2024