OMIA:002130-94885 : Coat colour, oculocutaneous albinism, OCA2-related in Pantherophis guttatus (corn snake)

In other species: Mexican tetra , Rhesus monkey , dog

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203200 (trait) , 611409 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes.

Species-specific name: Amelanism

Inheritance: Bechtel & Bechtel (1962) report that albinism in the corn snake is likely to be a recessive trait. Bechtel & Bechtel (1989) report that captive breeding of corn snakes has identified that the two colour mutations 'albinism' and 'anerythrism' are inherited independently and are both autosomal recessive.

Molecular basis: Saenko et al. (2015) identified 'that the insertion of an LTR-retrotransposon in its 11th intron results in a considerable truncation of the p protein and likely constitutes the causal mutation of amelanism in corn snakes.'

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OCA2 Pantherophis guttatus NW_026844017.1 (39107794..38881818) OCA2 Homologene, Ensembl , NCBI gene


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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
865 Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) Naturally occurring variant LTR retrotransposon in the 11th intron 2015 26597053

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002130-94885: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Guo, L., Kruglyak, L. :
Genetics and biology of coloration in reptiles: The curious case of the Lemon Frost geckos. Physiol Genomics , 2023. Pubmed reference: 37642275. DOI: 10.1152/physiolgenomics.00015.2023.
2015 Saenko, S.V., Lamichhaney, S., Martinez Barrio, A., Rafati, N., Andersson, L., Milinkovitch, M.C. :
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene. Sci Rep 5:17118, 2015. Pubmed reference: 26597053. DOI: 10.1038/srep17118.
2014 Ullate-Agote, A., Milinkovitch, M.C., Tzika, A.C. :
The genome sequence of the corn snake (Pantherophis guttatus), a valuable resource for EvoDevo studies in squamates. Int J Dev Biol 58:881-8, 2014. Pubmed reference: 26154328. DOI: 10.1387/ijdb.150060at.
1989 Bechtel, H.B., Bechtel, E. :
Color mutations in the corn snake (Elaphe guttata guttata): Review and additional breeding data Journal of Heredity 80:272–276, 1989. DOI:
1962 Bechtel, H.B., Bechtel, E. :
Heredity of albinism in the corn snake, Elaphe guttata guttata, demonstrated in captive breedings. Copeia 1962:436-437, 1962. DOI: 10.2307/1440917.

Edit History

  • Created by Imke Tammen2 on 30 Aug 2017
  • Changed by Imke Tammen2 on 30 Aug 2017
  • Changed by Frank Nicholas on 12 Sep 2017
  • Changed by Frank Nicholas on 11 Oct 2017
  • Changed by Imke Tammen2 on 31 Aug 2023