OMIA 001214-9615 : Osteochondromatosis in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EXT2||exostosin glycosyltransferase 2||Canis lupus familiaris||18||NC_006600.3 (45122339..44987310)||EXT2||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|
|American Staffordshire terrier||Osteochondromatosis||EXT2||nonsense (stop-gain)||CanFam3||18||g.5101754C>A||c.969C>A||p.Tyr323*||2018||29485212|
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.
|2018||Friedenberg, S.G., Vansteenkiste, D., Yost, O., Treeful, A.E., Meurs, K.M., Tokarz, D.A., Olby, N.J., Friedenberg, S.G., Vansteenkiste, D., Yost, O., Treeful, A.E., Meurs, K.M., Tokarz, D.A., Olby, N.J. :|
|A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers. J Vet Intern Med 32:986-992, 2018. Pubmed reference: 29485212. DOI: 10.1111/jvim.15073.|
|1996||Caporn, T.M., Read, R.A. :|
|Osteochondromatosis of the cervical spine causing compressive myelopathy in a dog Journal of Small Animal Practice 37:133-137, 1996. Pubmed reference: 8683956.|
|1978||Doige, C,E., Pharr, J.W. :|
|Chondrosarcoma arising in multiple cartilaginous exostoses in a dog. J Am Anim Hosp Assoc. 14:605–611, 1978.|
|1971||Chester, D.K. :|
|Multiple cartilaginous exostoses in two generations of dogs. J Am Vet Med Assoc 159:895-7, 1971. Pubmed reference: 5315272.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 26 Mar 2018