Osteogenesis Imperfecta (OI) or Brittle-bone Disease is an inherited autosomal recessive disease. Autosomal recessive diseases are diseases that can be passed from either parent and require two copies of the gene to show symptoms. The genetic mutation impairs the normal development of collagen, which causes bones and teeth to be thin and brittle. Although bones are of normal length, they can break or fracture easily due to low bone density. Once an injury occurs, healing can be slow or incomplete.
In addition to brittle teeth and bone fractures, symptoms of OI can also include loose joints, weak muscles and tendons, a curved spine, and hearing loss. In severe cases, dogs with OI will have to be euthanized. There is no cure for OI, but with proper care and caution dogs can still have decent quality of life.
While Osteogenesis Imperfecta is most commonly associated with Dachshunds and Beagles, the disease has also been detected in Golden Retrievers and other breeds. Causative mutations for some breeds have not been identified at this time.
|Affected: Dog has two copies of the OI mutation and will be affected. The gene will always be passed on to every offspring.
|Carrier: Dog has one copy of the OI mutation. Dog will not be affected by OI but may pass the mutation to offspring.
|Clear: Dog is negative for mutation associated with OI.
Campbell BG, Wootton JA, Macleod JN, Minor RR. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner Res. 2001 Jun; 16(6):1147-53. [PubMed: 11393792]