Breeds Affected: Dachshund
Samples Accepted: Blood, Buccal Swabs
Disease Information: OI in the Dachshund causes bones and teeth to be brittle and easy to break. Joints may also be very flexible. In Europe, the allele frequency has been found to be over 10%, and up to 20% in Germany.
Inheritance Information: Osteogenesis Imperfecta 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/oi The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/oi carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
oi/oi The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/oi carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/oi 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/oi x N/oi) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (oi/oi) should not be used for breeding.
Test Information: This test identifies a single base change in the SERPINH1 gene.
Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M., Baumann, U., Lindblad-Toh, K., Leeb, T.: A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed reference: 19629171. DOI: 10.1371/journal.pgen.1000579
Eckardt, J., Kluth, S., Dierks, C., Philipp, U., Distl, O.: Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec 172:364, 2013. Pubmed reference: 23315765. DOI: 10.1136/vr.101122
Further information is available at the Online Mendelian Inheritance in Animals website.