Osteochondrodysplasia / OC (SLC13A1-related) - Poodle

What does this test examine?

This genetic test analyses the SLC13A1 c.99+3353_*56671del variant in Miniature Poodle and Standard Poodle. The condition is also described as osteochondrodysplasia, OC, OCD, skeletal dwarfism and pseudoachondroplastic dysplasia. The result shows whether the dog carries zero, one or two copies of the tested variant.

What does this condition mean?

Osteochondrodysplasia disrupts normal cartilage and bone development. Affected puppies can show short or bowed limbs, splayed hind limbs, enlarged joints, a flattened chest, misshapen paws, an undershot jaw and persistent mobility problems from a young age. The SLC13A1 gene encodes a sulfate transporter; sulfate is needed for normal cartilage matrix and bone formation.

Inheritance and result

This form is inherited autosomal recessively. A dog with two copies of the deletion is genetically affected. Carriers have one copy, are important for breeding plans and can pass the deletion to offspring.

Practical value of this test

• identifies carriers before breeding combinations are chosen
• helps avoid matings that could produce affected puppies
• supports targeted selection in poodle lines where skeletal dwarfism is relevant
• provides a clear genetic explanation in young dogs with abnormal limbs or movement