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.
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|
|615||Brown Swiss||Tricho-dento-osseous-like syndrome||DLX3||insertion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||19||g.36665831_36665832insGGAGCACA||c.584_585insGGAGCACAGG||p.(S198Rfs*99)||NM_001081622 position is g.37298375_37298376insGGAGCACA||2017||28670783||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
|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