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Skeletal atavism (SA) is a hereditary bone development defect affecting Shetland Ponies and American Miniature Horses.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | PAR |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SA |
General information
Skeletal atavism (SA) is a hereditary bone development defect affecting Shetland Ponies and American Miniature Horses. It causes abnormal limb development in both front and hind limbs, including the front knee and hock.
Researchers identified two deletions (Del-1 and Del-2) in the short stature homeobox (SHOX) gene linked to this defect, with Del-1 being more common. The condition is inherited in an autosomal recessive way. About 12% of Shetland ponies are carriers.
Clinical features
Affected horses exhibit short legs, a rectangular body shape, narrowing at the knees, clubfoot, sever joint deformations and impaired movement. As they age, the leg angles and movement worsen, often requiring euthanasia within six months.
Additional information
An external laboratory performs the tests for both deletions: Del-1 (OMIA variant 686) and Del-2 (OMIA variant 1455). CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
References
Pubmed ID: 27207956
Year published: 2016
Omia ID: 2013
Omia variant ID: