Test Detail

Chondrodysplasia (dwarfism) - Norwegian Elkhound / Chinook / Karelian Bear Dog

Musculoesquelético · Dog

A form of recessive chondrodysplasia described in three breeds, in particular the Norwegian Elkhound and the Karelian Bear Dog, with extension of the test to the Chinook. It produces dwarfism caused by altered development of the growth cartilage, with shortened limbs and skeletal deformity. Affected animals show an abnormal growth pattern from an early age.
Inheritance patternAutosomal recessive
Gene / MutationITGA10 c.2083C>T p.(Arg695*); NC_006599.3:g.58703935G>A (CanFam3.1 assembly). OMIA001886-9615 (Norwegian Elkhound, Karelian Bear Dog and Chinook).
PenetranceComplete penetrance in homozygotes; heterozygotes are asymptomatic carriers.
Codesgqq
Turnaround time15 days
Price52,60 €

Incidence

Norwegian Elkhound, Karelian Bear Dog and Chinook. Carrier frequency of 24 % (156 Finnish Elkhounds) and 8 % (287 Karelian Bear Dogs) in the cohort of Kyöstilä et al. (2013); there are no consolidated figures for the Chinook. The molecular variant is the same in the three breeds.

Breeder management

- Test breeding animals before mating
- Do not cross two carriers: 25 % of the litter would be affected
- A carrier may be crossed with a clear animal; test the offspring intended for breeding
- In the Chinook, recommend additional caution due to the breed's lower molecular characterization

Specialist notes

Differential diagnosis with other canine skeletal dwarfisms (FGF4 chondrodysplasia, reticular dysplasia, juvenile hypothyroidism). Radiography and growth assessment are useful for phenotypic diagnosis. Genetic testing is decisive in well-characterized breeds.

References

1. Kyöstilä K et al. (2013) Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One 8(9):e75621. PMID: 24086591
2. Donner J et al. (2016) Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 11(8):e0161005. PMID: 27525650
3. OMIA:001886-9615. Chondrodysplasia, disproportionate short-limbed, ITGA10-related in Canis lupus familiaris. https://omia.org/OMIA001886/9615/

Add to cart

← Back to the search