OMIA 001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC13A1||solute carrier family 13 (sodium/sulfate symporter), member 1||Canis lupus familiaris||14||NC_051818.1 (60802007..60697897)||SLC13A1||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.
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|
|642||Miniature Poodle||Osteochondrodysplasia||SLC13A1||deletion, gross (>20)||Naturally occurring variant||CanFam3.1||14||g.60628774_60758561del||c.99+3353_*56671del||XM_005628770.1; a 129788bp deletion which "ablated all but the first exon of SLC13A1"||2012||23300579|
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.
|2012||Neff, M.W., Beck, J.S., Koeman, J.M., Boguslawski, E., Kefene, L., Borgman, A., Ruhe, A.L. :|
|Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PLoS One 7:e51917, 2012. Pubmed reference: 23300579. DOI: 10.1371/journal.pone.0051917.|
|1980||Riser, W.H., Haskins, M.E., Jesyk, P.F., Patterson, D.F. :|
|Pseudoachondroplastic dysplasia in Miniature Poodles: : clinical, radiologic, and pathologic features. Journal of the American Veterinary Medical Association 176:335-341, 1980. Pubmed reference: 6987200.|
|1977||Bruno, W., Janik, T. :|
|What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977.|
|1961||Amlof, J. :|
|On achondroplasia in the dog. Zentralblatt fur Veterinaermed 8:43–56, 1961.|
|1959||Gardner, D. :|
|Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio 77:243-247, 1959.|
|1956||Cotchin, E., Dyce, K. :|
|A case of epiphyseal dsyplasia in a dog. Veterinary Record 68:427–428, 1956.|
- Created by Imke Tammen2 on 29 Sep 2021
- Changed by Imke Tammen2 on 29 Sep 2021