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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 Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone".

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: "This variant was perfectly concordant with phenotype in 96 Shetland Ponies (P = 1.15 × 10-22), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (fmu = 0.02), and was absent in 252 individuals from seven additional breeds not reported to have the mushroom phenotype. MFSD12 is highly expressed in melanocytes and variants in this gene in humans, mice, and dogs impact pigmentation."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MFSD12 Equus caballus - no genomic information (-..-) MFSD12 Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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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.
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.
Tanaka, J., Leeb, T., Rushton, J., Famula, T.R., Mack, M., Jagannathan, V., Flury, C., Bachmann, I., Eberth, J., McDonnell, S.M., Penedo, M.C.T., Bellone, R.R. :
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies. Genes (Basel) 10:, 2019. Pubmed reference: 31635058. DOI: 10.3390/genes10100826.

Edit History


  • Created by Frank Nicholas on 23 May 2019
  • Changed by Frank Nicholas on 23 May 2019
  • Changed by Frank Nicholas on 03 Feb 2020