Osteogenesis Imperfecta (Golden Retriever Type)

General Information: Osteogenesis Imperfecta (OI) (Golden Retriever Type) is a hereditary collagen disorder that significantly impacts the structural integrity of bones in affected dogs. Typically presenting between 3 to 4 weeks of age, dogs with OI exhibit symptoms such as pain, lameness, and frequent fractures due to the defective collagen production that leads to abnormally thin and fragile bones. These fractures often do not heal properly, and additional symptoms may include loose joints and brittle teeth. Affected puppies are usually smaller than their littermates and may experience such severe symptoms that humane euthanasia is often considered by 3 months of age due to the intense suffering and poor quality of life associated with the disorder.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Osteogenesis Imperfecta (Golden Retriever Type) targets mutations in the COL1A2 gene, which is responsible for this condition. OI is inherited in an autosomal dominant manner, meaning that a dog only needs to inherit one copy of the mutated gene to develop the disease. Consequently, each puppy born to a parent carrying the mutation has a 50% chance of inheriting the condition. Genetic testing is essential for identifying carriers and making informed breeding decisions. To prevent the spread of OI and to avoid producing affected puppies, it is recommended to avoid breeding dogs known to carry the mutation. By ensuring that breeding pairs do not include carriers of the COL1A2 mutation, breeders can help eliminate this debilitating disease from their lines and contribute to the overall health and longevity of the breed.