OMIA 001431-9615 : Vitamin D-deficiency rickets, type II in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|VDR||vitamin D (1,25- dihydroxyvitamin D3) receptor||Canis lupus familiaris||27||NC_006609.3 (6852915..6909466)||VDR||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|
|Pomeranian||Vitamin D-deficiency rickets, type II||VDR||splicing||"A unique single base deletion (guanine) was identified at the exon 4-intron junction"||2009||19909429|
|2009||LeVine, DN., Zhou, Y., Ghiloni, RJ., Fields, EL., Birkenheuer, AJ., Gookin, JL., Roberston, ID., Malloy, PJ., Feldman, D. :|
|Hereditary 1,25-dihydroxyvitamin D-resistant rickets in a Pomeranian dog caused by a novel mutation in the vitamin D receptor gene. J Vet Intern Med 23:1278-83, 2009. Pubmed reference: 19909429. DOI: 10.1111/j.1939-1676.2009.0405.x.|
- Created by Frank Nicholas on 04 Apr 2010
- Changed by Frank Nicholas on 29 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 11 Jul 2017