Osteochondrodysplasia (OCD)
Osteochondrodysplasia (OCD)
General description
A genetic variant of the sulfate transporter SLC13A1 has been found to be associated with Osteochondrodysplasia in the breed Miniature Poodle. The variant causes obvious stunted growth (dwarfism) and abnormal locomotion in Miniature Poodles. Because of the affected bones and joints, mobility is often restricted.
Breeds
Miniature Poodle
Order details
| Test number | 8877 |
| Abbreviation | OCD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Age of onset | 3 weeks |
| Causality | causally |
| Gene | SLC13A1 |
| Mutation | COMPLEX |
| Literature | OMIA:001400-9615 |
Detailed description
A genetic variant of the sulfate transporter SLC13A1 has been found to be associated with Osteochondrodysplasia in the breed Miniature Poodle. The SLC13A1 transporter is responsible for the regulation of serum sulfate levels, therefore the genetic variant of the SLC13A1 gene causes a sulfate metabolic disorder. Since sulfation of proteoglycans in the cartilage is important for skeletal development, the genetic variant causes obvious stunted growth (dwarfism) and abnormal locomotion in Miniature Poodles. \n\nAffected pups usually show first signs of the disease at the age of three weeks. They exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws and misshaped paws (similar to clubfoot). Because of the affected bones and joints, mobility is often restricted and arthritis is a common secondary disease.
