OMIA 002109-9913 : Tricho-dento-osseous-like syndrome in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DLX3||distal-less homeobox 3||Bos taurus||19||NC_037346.1 (36662426..36667620)||DLX3||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|
|Brown Swiss||Tricho-dento-osseous-like syndrome||DLX3||insertion, small (<=20)||NM_001081622||19||g.37298375_37298376insGGAGCACA||c.584_585insGGAGCACAGG||p.Ser198ArgfsTer99||2017||28670783|
|2017||Hofstetter, S., Welle, M., Gorgas, D., Balmer, P., Roosje, P., Mock, T., Meylan, M., Jagannathan, V., Drögemüller, C. :|
|A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome. Vet Dermatol :, 2017. Pubmed reference: 28670783. DOI: 10.1111/vde.12462.|
- Created by Frank Nicholas on 05 Jul 2017
- Changed by Frank Nicholas on 05 Jul 2017