OMIA:002901-8296 : Skin colour, EDN3-related in Ambystoma mexicanum (axolotl) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131242 (gene) , 613265 (trait)
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2017
Species-specific name: White
Molecular basis: Woodcock et al. (2017) "identified in white mutants a transcriptional defect in endothelin 3 (edn3), encoding a peptide factor that promotes pigment cell migration and differentiation in other vertebrates. Transgenic restoration of Edn3 expression rescued the homozygous white mutant 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 |
|---|---|---|---|---|---|---|
| EDN3 | Ambystoma mexicanum | 3p | NC_090925.1 (379249872..378757891) | EDN3 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1747 | Skin colour, white | EDN3 | d | not known | Not currently evaluated | cDNA from animals with the white phenotype lack exon 2 | 2017 | 28127056 |
* 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
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002901-8296: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 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. |
Edit History
- Created by Imke Tammen2 on 30 Sep 2024