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_051822.1 (45796802..45647570) | EXT2 | Homologene, Ensembl, NCBI gene |
Variants
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
980 | American Staffordshire Terrier | Osteochondromatosis | EXT2 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 18 | g.45101754G>T | c.924C>A | p.(Y308*) | XM_014121199.2; XP_013976674.1; published as c.969C>A and p.(Y323*); coordinates in the table have been updated to a recent reference genome and / or transcript | 2018 | 29485212 |
References
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 | Czerwik, A., Olszewska, A., Starzomska, B., Korta, R., Henrich, M., Wrzosek, M., Schmidt, M.J. : | |
Multiple cartilaginous exostoses in a Swiss Mountain dog causing thoracolumbar compressive myelopathy. Acta Vet Scand 61:32, 2019. Pubmed reference: 31238951. DOI: 10.1186/s13028-019-0467-z. | ||
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. | ||
1999 | Green, E.M., Adams, W.M., Steinberg, H. : | |
Malignant transformation of solitary spinal osteochondroma in two mature dogs. Vet Radiol Ultrasound 40:634-7, 1999. Pubmed reference: 10608692. DOI: 10.1111/j.1740-8261.1999.tb00891.x. | ||
1998 | Farrett, W.D., Stone, P.A., McGarry, J.J. : | |
Rare presentation of hereditary multiple exostoses. A case report. J Am Podiatr Med Assoc 88:135-9, 1998. Pubmed reference: 9542355. DOI: 10.7547/87507315-88-3-135. | ||
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. | ||
Jacobsen, L.S., Kirberger, R.M. : | ||
Canine multiple cartilaginous exostoses - unusual manifestations and a review of the literature [Review] Journal of the American Animal Hospital Association 32:45-51, 1996. Pubmed reference: 8963735. | ||
1993 | Ness, M.G. : | |
Osteochondroma causing progressive posterior paresis in a Lakeland Terrier puppy Veterinary Record 132:608-609, 1993. Pubmed reference: 8337809. | ||
1983 | Alexander, J.W. : | |
Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. Vet Clin North Am Small Anim Pract 13:55-70, 1983. Pubmed reference: 6346655. | ||
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. | ||
1975 | Prata, R.G., Stoll, S.G., Zaki, F.A. : | |
Spinal cord compression caused by osteocartilaginous exostoses of the spine in two dogs. J Am Vet Med Assoc 166:371-5, 1975. Pubmed reference: 1116955. | ||
1971 | Chester, D.K. : | |
Multiple cartilaginous exostoses in two generations of dogs. J Am Vet Med Assoc 159:895-7, 1971. Pubmed reference: 5315272. | ||
Owen,L.N., Bostock, D.E. : | ||
Multiple cartilaginous exostoses with develpment of a metastasizing osteosarcoma in a Shetland Sheepdog Journal of Small Animal Practice 12:507-512, 1971. Pubmed reference: 5315155. | ||
1970 | Canciani, B., Buja, G., Betto, A., Schiavinato, M.L., Martini, B., Miorelli, M., Nava, A., Dingwall, J.S., Pass, D.A., Pennock, P.W., Cawley, A.J. : | |
Case report. Multiple cartilaginous exostoses in a dog. Can Vet J 11:114-9, 1970. Pubmed reference: 5310518. | ||
Gee, B.R., Doige, C.E. : | ||
Multiple cartilaginous exostoses in a litter of dogs. J Am Vet Med Assoc 156:53-9, 1970. Pubmed reference: 5308093. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 26 Mar 2018