OMIA 002130-94885 : Coat colour, oculocutaneous albinism, OCA2-related in Pantherophis guttatus

In other species: Mexican tetra , dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203200

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 - no genomic information (-..-) OCA2 Ensembl

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) LTR retrotransposon in the 11th intron 2015 26597053

References


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.
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.
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: https://doi.org/10.1093/oxfordjournals.jhered.a110853.
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