OMIA 002197-9796 : Coat colour, phaeomelanin dilution, MFSD12-related in Equus caballus
Currently no 'gene link' to NCBI; and ENSEMBL is incorrectly associating MFSD12 with 'CACTIN'.Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFSD12_||Equus caballus||-||no genomic information (-..-)||MFSD12_||Ensembl|
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.
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1426||Shetland Pony||Coat colour, dilution (mushroom)||MFSD12_||Mu||duplication||Naturally occurring variant||EquCab3.0||7||g.2544518dup||c.600dup||p.(D201fs)||XM_023646425.1; XP_023502193.1; published as NC_009150.3: g.2544512dup (XM_023646425.1:c.600dupC, p.Asp201fs); coordinates in the table have been updated to reflect HGVS nomenclature||2019||31635058|
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., 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) 10:826, 2019. Pubmed reference: 31635058. DOI: 10.3390/genes10100826.|
|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.|
- Created by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 10 Feb 2022