OMIA 001601-9615 : Sex reversal: XY female, SRY-positive in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HSD17B3||hydroxysteroid (17-beta) dehydrogenase 3||Canis lupus familiaris||1||NC_006583.2 (73607891..73642437)||HSD17B3||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Dachshund||Disorder of sexual development, 78,XY, SRY-positive||HSD17B3||deletion, small (<=20)||CanFam3.1||1||g.70,554,301_70,554,302delCA||2019||31476086|
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||Krzeminska, P., Nizanski, W., Nowacka-Woszuk, J., Switonski, M. :|
|Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Anim Genet :, 2019. Pubmed reference: 31476086. DOI: 10.1111/age.12850.|
|2013||Dianovský, J., Holečková, B., Hajurka, J., Šiviková, K., Cigánková, V. :|
|Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive). J Appl Genet 54:193-9, 2013. Pubmed reference: 23378246. DOI: 10.1007/s13353-013-0137-1.|
- Created by Frank Nicholas on 26 Nov 2013
- Changed by Frank Nicholas on 10 Sep 2019