OMIA 002013-9796 : Skeletal atavism in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SHOX||short stature homeobox||Equus caballus||-||no genomic information (-..-)||SHOX||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|
|686||Shetland Pony||Skeletal atavism||SHOX||deletion, gross (>20)||Naturally occurring variant||PAR||"two partially overlapping large deletions [are] in the pseudoautosomal region (PAR) of chromosome X/Y"; "One of the identified deletions removes the entire coding region of the short stature homeobox (SHOX) gene and both deletions remove parts of the cytokine receptor-like factor 2 (CRLF2) gene located downstream of SHOX."||2016||27207956|
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.
|2016||Rafati, N., Andersson, L.S., Mikko, S., Feng, C., Raudsepp, T., Pettersson, J., Janecka, J., Wattle, O., Ameur, A., Thyreen, G., Eberth, J., Huddleston, J., Malig, M., Bailey, E., Eichler, E.E., Dalin, G., Chowdary, B., Anderssson, L., Lindgren, G., Rubin, C.J. :|
|Large deletions at the SHOX locus in the pseudoautosomal region are associated with skeletal atavism in Shetland ponies. G3 (Bethesda) :, 2016. Pubmed reference: 27207956. DOI: 10.1534/g3.116.029645.|
|2004||Tyson, R., Graham, J.P., Colahan, P.T., Berry, C.R. :|
|Skeletal atavism in a miniature horse. Vet Radiol Ultrasound 45:315-7, 2004. Pubmed reference: 15373256.|
|1995||Hall, B.K. :|
|Atavisms and atavistic mutations. Nat Genet 10:126-7, 1995. Pubmed reference: 7663504. DOI: 10.1038/ng0695-126.|
|Martens, P. :|
|Limb deviation in a Shetland pony foal Equine Practice 17:24-26, 1995.|
|1987||Hermans, W.A., Kersjes, A.W., van der Mey, G.J., Dik, K.J. :|
|Investigation into the heredity of congenital lateral patellar (sub)luxation in the Shetland pony. Vet Q 9:1-8, 1987. Pubmed reference: 3564314. DOI: 10.1080/01652176.1987.9694070.|
|1985||Shamis, L.D., Auer, J. :|
|Complete ulnas and fibulas in a pony foal. J Am Vet Med Assoc 186:802-4, 1985. Pubmed reference: 3997641.|
|1970||Hermans, W.A. :|
|A hereditary anomaly in Shetland ponies Netherlands Journal of Veterinary Science 3:55-63, 1970.|
|1958||Speed, J.G. :|
|A cause of malformation of the limbs of Shetland ponies with a note on its phylogenic significance British Veterinary Journal 114:18-22, 1958.|
- Created by Frank Nicholas on 23 May 2016
- Changed by Frank Nicholas on 23 May 2016
- Changed by Frank Nicholas on 24 May 2016