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OMIA:002292-452646 : Coat colour, dilution, RAB38-related in Neovison vison (American mink)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606281 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: no

Key variant known: yes

Year key variant first reported: 2020

Species-specific name: Moyle coat colour

Molecular basis: Manakhov et al. (2020): "our data suggest that mutations RAB383del and RAB381dup are associated with the Moyle fur colour phenotype". Specifically, homozygosity for either variant or heterozygosity for both variants results in the Moyle coat colour.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RAB38 Neovison vison 7 NC_058097.1 (136330127..136387787) RAB38 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
1256 Moyle coat colour RAB38 deletion, small (<=20) Naturally occurring variant NNQGG.v01 1 g.16075438_16075453del c.574-589del "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1257 Moyle coat colour RAB38 duplication Naturally occurring variant NNQGG.v01 1 g.16132224_16132225dupCT c.20-21dup "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002292-452646: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2020 Manakhov, A.D., Mintseva, M.Y., Andreev, I.A., Uralsky, L.I., Andreeva, T.V., Trapezov, O.V., Rogaev, E.I. :
Genome analysis of American minks reveals link of mutations in Ras-related protein-38 gene to Moyle brown coat phenotype. Sci Rep 10:15876, 2020. Pubmed reference: 32985525. DOI: 10.1038/s41598-020-72239-5.

Edit History


  • Created by Frank Nicholas on 27 Oct 2020
  • Changed by Frank Nicholas on 27 Oct 2020