OMIA 001400-9940 : Chondrodysplasia, Texel in Ovis aries |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2012
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.
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)
Breed:
Texel.
Associated gene:
| 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_019461.2 (87535387..87434049) | SLC13A1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Texel | Chondrodysplasia, Texel | SLC13A1 | deletion, small (<=20) | JN108880 | g.25513delT | c.107delT | 2012 | 22742499 |
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.
| 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. |
Edit History
- 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