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Chondrodysplasia (Karelian Bear Dog and Norwegian Elkhound Type)

Chondrodysplasia (dwarfism) in Karelian Bear Dogs and Norwegian Elkhounds is a genetic disorder marked by malformed cartilage and bone development leading to dwarfism.

Affected Genes: ITGA10

Inheritance: Autosomal Recessive

Variant(canFam6):
chr17:58172195: G>A

Breed: Chinook
Karelian Bear Dog
Norwegian Elkhound

General Information: Chondrodysplasia, commonly referred to as dwarfism, affects specific breeds such as the Karelian Bear Dog and Norwegian Elkhound, leading to significant alterations in bone and cartilage development. Dogs with this condition exhibit notably shorter limbs, approximately 10 cm shorter on average than unaffected dogs, along with bowed legs, shortened digits, and a "knock-knee" stance. These physical changes can contribute to joint misalignment and subsequently predispose the animals to early onset of arthritis. Other associated conditions may include hip dysplasia and muscle atrophy, particularly in the hind limbs, which can affect the dog's mobility and overall quality of life.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Chondrodysplasia (dwarfism) in breeds like Karelian Bear Dogs and Norwegian Elkhounds targets the ITGA10 gene to identify carriers or dogs affected by this autosomal recessive trait. A dog needs to inherit two copies of the mutated gene, one from each parent, to exhibit symptoms of the disorder. Carrier dogs, possessing one copy of the mutated gene, generally do not show any symptoms but can pass the gene to their offspring. Breeding two carrier dogs results in a 25% chance of producing affected offspring and a 50% chance of producing carriers. Therefore, genetic testing is critical for breeders to responsibly manage breeding practices, aiming to prevent the birth of affected puppies and gradually reduce the prevalence of this mutation in the gene pool. Breeding strategies should avoid mating carrier dogs to prevent the disease's propagation, ensuring that future generations are free from the disorder.

References:
Bingel SA, Sande RD. Chondrodysplasia in the Norwegian elkhound. Am J Pathol. 1982 107(2):219-229.

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 11(8):e0161005.

Kyostila K, Lappalainen AK, Lohi H. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One 2013 8(9):e75621.