Breeds Affected: Finnish Hound, Norrbottenspitz
Samples Accepted: Blood, Buccal Swabs
Disease Information: Cerebellar Ataxia (CA) in the Finnish Hound is early on-set and is usually diagnosed between 7-12 weeks of age. Affected pups show a lack of coordination, difficulty balancing and walking, and tremor. Disease progression is fast, and pups are normally humanely euthanized before 6 months of age.
Inheritance Information: Cerebellar Ataxia 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/ca The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/ca carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ca/ca The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/ca carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/ca 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/ca x N/ca) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (ca/ca) should not be used for breeding.
Test Information: This mutation test identifies a single base change the SEL1L 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., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H.: A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery. PLoS Genet 8:e1002759, 2012. Pubmed reference: 22719266. Doi: 10.1371/journal.pgen.1002759.
Further information is available at the Online Mendelian Inheritance in Animals website.