Chondrodysplasia / disproportionate short-legged dwarfism (ITGA10-related) - Dog

What does this test examine?

This genetic test analyses the ITGA10 c.2083C>T variant in dogs. The condition is described as chondrodysplasia, ITGA10-related chondrodysplasia, disproportionately short-limbed chondrodysplasia, disproportionate dwarfism or short-legged phenotype. The test is especially relevant for breeds in which this specific variant has been described, including the Chinook, Karelian Bear Dog and Norwegian Elkhound.

What does this mean for the dog?

ITGA10 encodes integrin alpha-10, a protein important for cartilage and normal skeletal development. Dogs with two copies of the tested variant develop a disproportionate short-limbed skeletal phenotype. The dog then has relatively short limbs compared with the rest of the body. One copy makes the dog a carrier without causing the recessive affected genotype.

Practical value of this test

• The result shows whether a dog is clear, a carrier or genetically affected.
• Breeders can avoid carrier-to-carrier matings and prevent affected puppies.
• The test supports targeted breeding selection in breeds and lines where disproportionate short-legged build occurs.
• In a short-limbed dog, the analysis can help distinguish this ITGA10 form from other causes of short-legged phenotype.

Inheritance and result

This ITGA10-related chondrodysplasia is inherited as an autosomal recessive trait. A dog with C/C does not carry the variant, C/T is a carrier and T/T causes the genetically affected genotype.