Osteochondrodysplasia (OC)
Kodas: H898
Short description
Osteochondrodysplasia (OCD) is a form of skeletal dwarfism.
General information
Osteochondrodysplasia (OCD) is a form of skeletal dwarfism. Affected dogs have abnormally short legs but a normal sized body due to abnormal fetal skeletal maturation. This variant of the disorder is caused by a recessive mutation to the SLC13A1 gene.
Specifications
| Breeds | |
|---|---|
| Gene | SLC13A1 |
| Chromosome | 14 |
| Mutation | c.99+3353_*56671del |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | OCD |
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
Year published: 2012
Omia ID: 1400
Omia variant ID:
Turnaround information
- 10 working days