OMIA 000031-9940 : Coat colour, dilution, MLPH-related in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Ovis aries||1||NC_056054.1 (3692056..3645641)||MLPH||Homologene, Ensembl, NCBI gene|
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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.
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|
|1217||Jacob||Lilac||MLPH||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||1||g.3580535C>A||p.(E14*)||Oar_v4.0 position is NC_019458.2:g.3451931C>A; NP_001139743.1:p.Glu14* (Posbergh et al., 2020)||2020||32512769|
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.
|2020||Posbergh, C.J., Staiger, E.A., Huson, H.J. :|
|A stop-gain mutation within MLPH is responsible for the lilac dilution observed in Jacob sheep. Genes (Basel) 11:, 2020. Pubmed reference: 32512769. DOI: 10.3390/genes11060618.|
|2018||Anjola, O., McEwan, N. :|
|Inheritance patterns of coat colouration and horn number in Jacob sheep Open Agriculture 3:363-367, 2018.|
- Created by Frank Nicholas on 11 Jun 2020
- Changed by Frank Nicholas on 11 Jun 2020