OMIA 002197-9796 : Coat colour, phaeomelanin dilution, MFSD12-related in Equus caballus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 617745

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2019

Species-specific description: Tanaka et al. (2019): "Mushroom is a unique coat color phenotype in the Shetland Pony. It is characterized by the dilution of the chestnut coat color to a light sepia tone and is hypothesized to be a recessive trait."

Mapping: Tanaka et al. (2019) mapped this locus to chromosome ECA7.

Molecular basis: Tanaka et al. (2019) provided evidence supporting a frameshift mutation (p.Asp201fs) in the MFSD12 gene as being a likely causal variant for the mushroom coat colour.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MFSD12 Equus caballus - no genomic information (-..-) MFSD12 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
Shetland Pony Mushroom MFSD12 not known 7 p.(Asp201fs) 2019 Reference not in PubMed; see OMIA 002197-9796 for reference details

Reference


2019 Tanaka, J.L., Leeb, T., Mack, M., Jagannathan, V., Flury, C., Bachmann, I., McDonnell, S., Penedo, M.C., Bellone, R.R. :
A Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies PAG XXVII :W355, 2019.

Edit History


  • Created by Frank Nicholas on 23 May 2019
  • Changed by Frank Nicholas on 23 May 2019