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Osteogenesis imperfecta, type III, COL1A1-related
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Osteogenesis imperfecta, type III, COL1A1-related
OMIA
2126
Gene Name
COL1A1
Mutation
c.1276G>C
Mutation 2
c.3991_3994del
Mutation 3
c.3991insTGTCATTGG
Test Type
Genetic Disease/Disorder
Key Comments
Golden Retrievers and their crosses: considered rare, and possibly line-specific
Details
Also known as Brittle Bone Disease. As with humans, causes abnormally brittle bones that fracture easily.
Details 2
Causes abnormally brittle bones that fracture easily.
Published
Lazar, T., deHaan, J.J., Peck, J.N., Campbell, B.G., Ginn, P.E., Phillips, L., Suero, A., Chase, J. : Osteogenesis imperfecta in three dogs from a single litter Veterinary & Comparative Orthopaedics & Traumatology 13:23-27, 2000.
Body/System/Process
Skeletal
Inheritance
AD
