OMIA:002770-51751 : Skin colour, MC1R-related in Python regius (ball python) |
In other species: ocellated lizard
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 155555 (gene)
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Garcia-Elfring et al. (2025) "investigate the genetic basis of the Clown colour morph found in captive-bred ball pythons (Python regius) to study skin pigmentation and patterning in snakes. ... [The authors] identified a missense mutation [omia.varaint:1765] in a transmembrane region of the melanocortin-1 receptor (MC1R) associated with the Clown phenotype."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MC1R | Python regius | - | no genomic information (-..-) | MC1R | Ensembl |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1765 | Skin colour, Clown colour morph | MC1R | missense | Naturally occurring variant | 3 | c.149G>A | p.(S50N) | 2025 | 39609249 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002770-51751: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Garcia-Elfring, A., Roffey, H.L., Abergas, J.M., Wuyts, J., Hendry, A.P., Tzika, A.C., Barrett, R.D.H. : |
| A ball python colour morph implicates MC1R in melanophore-xanthophore distribution and pattern formation. Pigment Cell Melanoma Res 38:e13215, 2025. Pubmed reference: 39609249. DOI: 10.1111/pcmr.13215. |
Edit History
- Created by Imke Tammen2 on 31 Dec 2024
- Changed by Imke Tammen2 on 31 Dec 2024