OMIA 002197-9796 : Coat colour, phaeomelanin dilution, MFSD12-related in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFSD12||Equus caballus||-||no genomic information (-..-)||MFSD12||Ensembl|
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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|
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.|
- Created by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 23 May 2019
- Changed by Frank Nicholas on 03 Feb 2020