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Genetic Test for Osteochondrodysplasia in the Miniature Poodle

A genetic variant of the sulfate transporter SLC13A1 has been identified in the Miniature Poodle, which can be associated with osteochondrodysplasia in this breed.

The SLC13A1 transporter is responsible for the regulation of the sulfate level in the serum and the described variant of the SLC13A1 gene consequently triggers a disturbance of the sulfate metabolism. As the sulphation of proteoglycans in cartilage tissue plays an important role in skeletal development, the genetic variant in miniature poodles causes clearly visible short stature and abnormal locomotion.
Affected puppies usually show the first symptoms at the age of three weeks. They have widely flared hind legs, enlarged joints, a flattened ribcage, shortened and bent long bones, an underbite and deformed paws (similar to club feet). Due to the impaired bones and joints, the mobility of affected dogs is often severely restricted and arthritis is a common secondary disease.