Chondrodysplasia (Karelian Bear Dog and Norwegian Elkhound Type)

Other Names: Dwarfism
Affected Genes: ITGA10
Inheritance: Autosomal Recessive
Mutation: chr17:58703935 (canFam3): C>T

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Common Symptoms

Chondrodysplasia is an inherited disease affecting Karelian bear dogs. Affected dogs are unable to synthesize a protein important for cartilage and bone development resulting in dwarfism. Symptoms can include short bowed legs, shortening of outer digits, “knock-knee” appearance, hip dysplasia and muscle Atrophy of hind limbs. On average, limbs of affected adults are about 10 cm shorter than normal dogs. Due to abnormal bone alignment at joints, dogs with this condition may be predisposed to arthritis as they age.

Breed-Specific Information for the Karelian Bear Dog

The Mutation of the ITGA10 gene associated with chondrodysplasia (Karelian bear dog and Norwegian elkhound Type) has been identified in Karelian bear dogs. Though the exact frequency in the overall Karelian bear dog population is unknown, approximately 8% out of 287 unaffected Karelian bear dogs tested were carriers of the mutation.

Testing Tips

Genetic testing of the ITGA10 gene in Karelian bear dogs will reliably determine whether a dog is a genetic Carrier of chondrodysplasia. Chondrodysplasia is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ITGA10 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Karelian bear dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Bingel SA, Sande RD. Chondrodysplasia in the Norwegian elkhound. Am J Pathol. 1982 May;107(2):219-29. [PubMed: 7081383]
  • Donner J, Kaukonen M, Anderson H, Moller Fredrik, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. doi: 10.1371/journal.pone.0161005. [PubMed: 27525650]
  • Kyostila K, Lappalainen AK, Lohi H. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One. 2013 Sep 25;8(9):e75621. doi:10.1371/journal.pone.0075621. eCollection 2013. [PubMed: 24086591]