OMIA:002889-481883 : Skin colour, PAX7-related in Eublepharis macularius (Leopard gecko) |
In other species: goldfish
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 167410 (gene)
Mendelian trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Mack Super Snow colour morph
Species-specific description: Ullgate-Agote and Tzika (2024) investigated skin colour pattern changes in leopard geckos: hatchlings present with a banded pattern which changes to spots in adults. As part of this reserach they investigated the Mack Super Snow color morph and identified "that this morph lacks xanthophores and iridophores due to a genetic mutation in the PAX7 transcription factor."
Molecular basis: Ullgate-Agote and Tzika (2024) used a mapping-by-sequencing analyses to identify a 1.29 Mb genomic interval where the Mack Super Snow colour morph variant is located. The authors identified a 13-nucleotide deletion in PAX7 as likely causal variant.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PAX7 | paired box 7 | Eublepharis macularius | 17 | NC_072806.1 (1820721..1952340) | PAX7 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1740 | Skin colour, Mack Super Snow morph | PAX7 | mss | deletion, small (<=20) | Naturally occurring variant | MPM_Emac_v1.0 | 17 | NC_072806.1:g.1828552_1828564del | 13-nucleotide deletion spans the last six nucleotides of exon 4 and the first seven nucleotides of intron 4 | 2024 | 38976731 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002889-481883: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Ullate-Agote, A., Tzika, A.C. : |
| The dynamic behavior of chromatophores marks the transition from bands to spots in leopard geckos. Proc Natl Acad Sci U S A 121:e2400486121, 2024. Pubmed reference: 38976731. DOI: 10.1073/pnas.2400486121. |
Edit History
- Created by Imke Tammen2 on 06 Sep 2024