OMIA:001400-9940 : Chondrodysplasia, SLC13A1-related in Ovis aries (sheep)
In other species: dog
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 606193 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: This phene was originally named 'Chondrodysplasia, Texel'
Mapping: Using the ovine SNP50 BeadChip, Zhao et al. (2012) mapped this disorder to a 1Mb region on chromosome OAR4.
Molecular basis: Zhao et al. (2012) reported the causal mutation as being "a one base pair deletion, T (JN108880:g.25513delT) at the 107 bp position of exon 3" of the SLC13A1 gene.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "Disproportionate dwarfism, a stocky appearance with shortened neck and limbs, bilateral varus deformities of the forelimbs, flexion of the carpal joints, a barrel-shaped chest and wide-based stance" (Zhao et al., 2012)
Texel (Sheep) (VBO_0001641).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC13A1||solute carrier family 13 (sodium/sulfate symporter), member 1||Ovis aries||4||NC_056057.1 (89167038..89066212)||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|
|506||Texel (Sheep)||Chondrodysplasia, Texel||SLC13A1||deletion, small (<=20)||Naturally occurring variant||Oar_rambouillet_v1.0||4||g.95624809del||c.334del||Published as JN108880: g.25513delT / c.107delT. Position c.334delT based on ENSOARG00020003399||2012||22742499||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries: g.95624809delA; c.334delT. 210906 After confirming the g location with NCBI BLAST, FN deleted the A and T, to conform with HGVS notation.|
Cite this entry
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||Zhao, X., Onteru, S.K., Piripi, S., Thompson, K.G., Blair, H.T., Garrick, D.J., Rothschild, M.F. :|
|In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep. Anim Genet 43 Suppl 1:9-18, 2012. Pubmed reference: 22742499. DOI: 10.1111/j.1365-2052.2011.02304.x.|
|2008||Byrne, T.J., Blair, H.T., Thompson, K.G., Stowell, K.M., Piripi, S. :|
|Inheritance of chondrodysplasia in Texel sheep Proceedings of the New Zealand Society of Animal Production 68:20-22, 2008.|
|2005||Thompson, KG., Blair, HT., Linney, LE., West, DM., Byrne, T. :|
|Inherited chondrodysplasia in Texel sheep. N Z Vet J 53:208-12, 2005. Pubmed reference: 16012591. DOI: 10.1080/00480169.2005.36506.|
|2003||Thompson, K.G., Blair, H.T., Linney, L.E., West, D.M. :|
|Chondrodysplasia of Texel sheep - a new disease of suspected genetic aetiology (abstract). N Z Vet J 51:45, 2003. Pubmed reference: 16032292. DOI: 10.1080/00480169.2003.36336.|
- Created by Frank Nicholas on 07 Sep 2005
- Changed by Frank Nicholas on 03 Oct 2011
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 25 Nov 2013