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)

Single-gene 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

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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
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.

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  • Created by Imke Tammen2 on 06 Sep 2024