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Phenotype: Horses with skeletal atavism typically display short legs, a low rectangular shape body, narrowing at the knees, clubfoot, and impaired movement. The angles of the legs and pattern of movement progressively worsen as the foal ages, and in most cases, the horse has to be euthanized within six months.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal/Unaffected, Del1 = Deletion 1, Del2 = Deletion 2
Breeds appropriate for testing: Miniature Horse, Shetland Pony
Explanation of Results:
- Horses with N/N genotype will not have skeletal atavism and cannot transmit a skeletal atavism variant to their offspring.
- Horses with N/Del1 or N/Del2 genotype will not have skeletal atavism, but are carriers. They may transmit a skeletal atavism variant to 50% of their offspring. Matings between two carriers result in a 25% chance of producing an affected foal.
- Horses with Del1/Del1, Del2/Del2, or Del1/Del2 will have skeletal atavism.
Skeletal atavism is a heritable defect of bone development that occurs in Shetland Ponies and American Miniature Horses. It is characterized by the ulna (bone next to radius) and fibula (bone next to tibia) growing too long and failing to fuse to the radius and tibia, leading to abnormal limb development. The defect affects both front and hind limbs, resulting in severe angle anomalies and deformation of the front knee and hock. Horses with skeletal atavism typically display short legs, a low rectangular shape body, narrowing at the knees, clubfoot, and impaired movement. The angles of the legs and pattern of movement progressively worsen as the foal ages, and in most cases, the horse has to be euthanized within six months.
A team of researchers in Sweden identified two independent, overlapping regions in the SHOX gene where DNA sequences were lost (deletions) in affected ponies. The deletions (Del1 and Del2) are of different sizes with the larger deletion (Del1) being more common among ponies. Skeletal atavism is inherited as a simple recessive trait. It is estimated that about 12% of Shetland ponies are carriers. Regardless of sex, horses that carry two copies of the defective gene—either two copies of Del1, two copies of Del2, or one of each—are affected.
Testing for these skeletal atavism variants can assist owners and breeders in identifying carriers and making informed choices of mating pairs to avoid producing affected foals. Matings between carriers can result in 25% of foals having skeletal atavism.
Type of Test
|Test Result||Skeletal Atavism|
|N/N||Normal. Horse does not have any copies of the Skeletal Atavism mutations.|
|N/Del1||Carrier. Horse has 1 copy of a Skeletal Atavism mutation.|
|N/Del2||Carrier. Horse has 1 copy of a Skeletal Atavism mutation.|
|Del1/Del1||Affected. Horse has 2 copies of a Skeletal Atavism mutation.|
|Del2/Del2||Affected. Horse has 2 copies of a Skeletal Atavism mutation.|
|Del1/Del2||Affected. Horse has 2 copies of a Skeletal Atavism mutation.|
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., Andersson, L., Lindgren, G., & Rubin, C. J. (2016). Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3: Genes|Genomes|Genetics (Bethesda), 6(7), 2213-2223. doi: 10.1534/g3.116.029645
This test is performed under a license agreement with Capilet Genetics, Sweden.