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

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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