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)

Single-gene 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