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Osteogenesis Imperfecta (OI) is an inherited Collagen disorder.
Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures.
OI is caused by a defect is in the way collagen is made.
Because collagen is an important component of bone, bones of affected dogs are thinner than normal, fracture easily and do not heal properly.
Other features of the disorder include loose joints and brittle teeth.
Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
Serpin family H member 1 (SERPINH1) on Chromosome 21
Variant Detected:
Base Substitution c.977C>T p.Leu326Pro
Mode of Inheritance:
Recomended Screening:
Research Citation(s):