OMIA 001931-9913 : Depigmentation associated with microphthalmia in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Bos taurus||22||NC_037349.1 (31843514..31614654)||MITF||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.
|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|
|Holstein||Depigmentation associated with microphthalmia||MITF||deletion, gross (>20)||a de novo deletion of a 19.1 Mb region of BTA22 from 28 835 247-47 983 179||2014||25199536|
|2014||Wiedemar, N., Drögemüller, C. :|
|A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf. Anim Genet :, 2014. Pubmed reference: 25199536. DOI: 10.1111/age.12213.|
- Created by Frank Nicholas on 22 Sep 2014
- Changed by Frank Nicholas on 22 Sep 2014