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Osteogenesis Imperfecta (Beagle Type)

Osteogenesis Imperfecta (OI) (Beagle Type) is a genetic collagen disorder that causes severe bone fragility and frequent fractures in Beagles from a young age.

Affected Genes: COL1A2

Inheritance: Autosomal Dominant

Variant(canFam6):
chr14:19477635: 4 bp deletion & 9 bp insertion CTGA>TGTCATTGG

Breed: Beagle

General Information: Osteogenesis Imperfecta (OI) (Beagle Type) is an inherited collagen disorder that significantly compromises bone strength and integrity in affected Beagles. Puppies with this condition typically start showing symptoms between 3 to 4 weeks of age, including pain, lameness, and frequent fractures due to defective collagen production, which leads to bones that are abnormally thin and fragile. Additional symptoms may include loose joints, brittle teeth, and a smaller size compared to their littermates. The severity of OI often results in affected puppies being euthanized by 3 months of age due to the significant pain and poor quality of life. This condition profoundly impacts the affected dogs' overall health and mobility.

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 (OI) (Beagle Type) focuses on identifying mutations in the COL1A2 gene, which is responsible for this disorder. OI follows an autosomal dominant inheritance pattern, meaning that a dog needs to inherit only 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 OI. Genetic testing is crucial for identifying carriers of the COL1A2 mutation and making informed breeding decisions. To prevent the transmission of OI and avoid producing affected puppies, it is recommended to avoid breeding dogs known to carry the mutation. Ensuring that breeding pairs do not include carriers of this mutation can help eliminate the presence of this debilitating condition in future generations and promote the health and genetic integrity of the breed.

References:
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 16(6):1147-153.