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Osteogenesis Imperfecta (Discovered in the Beagle)

Osteogenesis Imperfecta (OI) is a disease of fragile bones and loose joints.

Key Signs

Bones that break easily, Weak teeth, Dentinogenesis imperfecta, Hyperlaxity

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Dominant

For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with OI

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about OI

The clinical signs of osteogenesis imperfecta include pain, factures and lameness due to brittle bones, joint laxity, and brittle, opalescent teeth. Other possible signs are loss of hearing, stunted growth, and blue tinted sclera. The clinical signs are already evident in puppyhood. Bones of affected dogs fracture easily, for example during the course of normal puppy play.

Treatment is supportive care and activity restriction to prevent fractures. Affected puppies are typically smaller than littermates and are often euthanized by 3 months of age due to welfare concerns.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal dominant meaning that one copy of the mutation is needed for disease signs to occur. Use of dogs with one or two copies of the disease mutation is not recommended, as there is a risk that the resulting litter will contain affected puppies. For example if a dog with one copy of the OI mutation is bred with a clear dog with no copies of the OI mutation, about half of the puppies will have one copy and half will have no copies of the OI mutation. Please note: It is possible that disease signs similar to the ones caused by the OI mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene COL1A2
Variant C>T
Chromosome 14
Coordinate 19,918,265

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Campbell, B. G., Wootton, J. A. M., Macleod, J. N., & Minor, R. R. (2001). Canine COL1A2 mutation resulting in C-terminal truncation of pro-α2(I) and severe osteogenesis imperfecta. Journal of Bone and Mineral Research, 16(6), 1147–1153. View the article