Breeds Affected: Norwegian Elkhound,Karelian Bear Dogs & Chinook
Samples Accepted: Blood, Buccal Swabs
Disease Information: Dogs affected with Chondrodysplasia are shorter than normal dogs, with reductions in length of long bones and torso, along with bowed front legs and growth plate disruptions.
Inheritance Information: Chondrodysplasia is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/chd The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/chd carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
chd/chd The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/chd carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/chd x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/chd x N/chd) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (chd/chd) should not be used for breeding.
Test Information: This mutation test identifies a single base pair change in exon 16 of the ITAG10 gene.
Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, 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 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
Kyöstilä, K., Lappalainen, A.K., Lohi, H.: Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10. PLoS One 8:e75621, 2013. Pubmed reference: 24086591. Doi: 10.1371/journal.pone.0075621.
Further information is available at the Online Mendelian Inheritance in Animals website.