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Dogs affected with osteochondrodysplasia (OCD) have a mutation in the SLC13A1 gene.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Dogs affected with osteochondrodysplasia (OCD) have a mutation in the SLC13A1 gene. Osteochondrodysplasia is a form of skeletal dwarfism, affected dogs have abnormally short legs but a normal sized body due to abnormal fetal skeletal maturation.
Clinical features
Affected pups soon develop abducted (splayed) hind limbs, enlarged joints, flattened rib cages, shortened and bent long bones, and deformed paws that resemble clubfoot. The stiffness of joints is very severe in young affected dogs but decreases with age. The mobility remains limited and arthritis is a common consequence.
Additional information
This test is based on an association study.
References
Pubmed ID: 23300579
Omia ID: 1400
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