OMIA 002186-9615 : Screw tail in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DVL2||dishevelled segment polarity protein 2||Canis lupus familiaris||5||NC_006587.3 (32201922..32194326)||DVL2||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|
|Boston Terrier Bulldog French Bulldog||Screw tail||DVL2||deletion, small (<=20)||CanFam3||5||g.32195043_32195044del||c.2044delC||p.Pro684LeufsX26||2018||30521570|
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||Mansour, T.A., Lucot, K., Konopelski, S.E., Dickinson, P.J., Sturges, B.K., Vernau, K.L., Choi, S., Stern, J.A., Thomasy, S.M., Döring, S., Verstraete, F.J.M., Johnson, E.G., York, D., Rebhun, R.B., Ho, H.H., Brown, C.T., Bannasch, D.L. :|
|Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PLoS Genet 14:e1007850, 2018. Pubmed reference: 30521570. DOI: 10.1371/journal.pgen.1007850.|
|2014||Guevar, J., Penderis, J., Faller, K., Yeamans, C., Stalin, C., Gutierrez-Quintana, R. :|
|Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation. PLoS One 9:e106957, 2014. Pubmed reference: 25198374. DOI: 10.1371/journal.pone.0106957.|
|Gutierrez-Quintana, R., Guevar, J., Stalin, C., Faller, K., Yeamans, C., Penderis, J. :|
|A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. Vet Radiol Ultrasound 55:585-91, 2014. Pubmed reference: 24833506. DOI: 10.1111/vru.12172.|
- Created by Frank Nicholas on 29 Mar 2019
- Changed by Frank Nicholas on 29 Mar 2019