Osteogenesis imperfecta Golden Retriever type (OI)
Osteogenesis imperfecta Golden Retriever type (OI) is a hereditary disease characterized by extremely fragile bones and teeth caused by defects in the structure of collagen I, a major protein component in connective tissue, and of the extracellular matrix of bone. The highly ordered structure of its fibrils stabilises the tissue of bones, teeth, ligaments and sinews. The osteogenesis imperfecta phenotype ranges from mild bone fragility to perinatal death due to innumerable fractures and severe deformity. The osteogenesis imperfecta is sometimes also accompanied by blue sclera dentinogenesis imperfecta known as glassy teeth, hearing loss, dwarfism, pulmonary complications and other problems. Young animals are mostly affected during the first few weeks of life.
Campbell, B.G., Wootton, J.A.M., MacLeod, J.N., and Minor, R.R. (2000). Sequence of Normal Canine COL1A1 cDNA and Identification of a Heterozygous α1(I) Collagen Gly208AIa Mutation in a Severe Case of Canine Osteogenesis Imperfecta. Archives of Biochemistry and Biophysics 384, 37–46.