Osteogenesis imperfecta (OI) is a hereditary disease characterized by extremely fragile bones and teeth. Clinical signs include pain, spontaneous fractures of bones, teeth fractures, joint hyperlaxity and reduced bone density on radiography. Teeth are very thin and fragile, otherwise normal size. In affected dogs, clinical signs occur within the first few weeks of life. OI is characterized by significant reduction of the formation of bone and tooth mass (osteopenia and dentinopenia) due to a defect in the formation of collagen type I. Collagen type I represents 90% of the organic material of bones, tendons and teeth. While it gives structure and elasticity to these organs, the defects in collagen lead to fragility. Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another.
Inheritance: autosomal recessive - read more
Mutation: COL1A2 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.