OMIA 002292-452646 : Coat colour, dilution, RAB38-related in Neovison vison

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606281

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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 - no genomic information (-..-) RAB38 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.

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
Moyle coat colour RAB38 deletion, small (<=20) 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
Moyle coat colour RAB38 duplication 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

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