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OMIA 001400-9940 : Chondrodysplasia, SLC13A1-related in Ovis aries

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606193 (gene)

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.

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_056057.1 (89167038..89066212) SLC13A1 Homologene, Ensembl, NCBI gene

Variants

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.

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 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.
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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