OMIA:002758-51751 : Skin colour, dilution, MLPH-related in Python regius (ball python)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606526 (gene) , 609227 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: Ghost; Hypo; Orange Ghost

Inheritance: Lederer et al. (2023): "Ghost phenotype is recessive"

Molecular basis: Lederer et al. (2023) "... amplified and sequenced the coding regions and adjacent splice sites of [the functional candidate gene] MLPH in one animal described by its owner as Ghost and one animal having normal coloration (henceforth ‘wildtype’). ... We observed that the Ghost animal was homozygous for a 5-bp deletion in the eighth coding region of MLPH (OR035642:c.4919_4923del ... ). ... To test whether the 5-bp deletion in MLPH was associated with the Ghost phenotype in a broader population of animals, we genotyped ... 50 animals described by their owners as Ghost and 60 animals as described as Non-Ghost. ... We observed that all animals described as Ghost were homozygous for the 5-bp deletion ... . Non-Ghost animals, by contrast, did not carry the deletion (57 animals) or were heterozygous for it (three animals) .... These data show that homozygosity for the 5-bp deletion in MLPH is perfectly associated with the Ghost phenotype."

Clinical features: Lederer et al. (2023): "Ghost animals have lighter brown-to-black coloration compared to wildtype animals, and their shed skin is largely devoid of pigment ... . Ghost animals are healthy and show no abnormalities outside pigmentation."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MLPH melanophilin Python regius - no genomic information (-..-) MLPH Ensembl


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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
1617 Skin colour, Ghost MLPH delins, small (<=20) Naturally occurring variant c.4919_4923del p.(Q350Ilefs*15) OR035642 2023 37637270

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002758-51751: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Lederer, I., Shahid, B., Dao, U., Brogdon, A., Byrtus, H., Delva, M., Deva, O., Hatfield, P., Hertz, M., Justice, J., Mavor, S., Pilbeam, E., Rice, Z., Simpson, A., Temar, H., Wynn, R., Xhangolli, J., Graves, C., Seidel, H. :
A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (Python regius). MicroPubl Biol 2023, 2023. Pubmed reference: 37637270. DOI: 10.17912/micropub.biology.000896.

Edit History

  • Created by Imke Tammen2 on 29 Aug 2023