Osteogenesis Imperfecta Beagle Type (OI)

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Acronyms: OI
Gene: COL1A2
Mutation: Complex rearrangement
Mode of inheritance: Autosomal dominant
Breeds: Beagle

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Product Description

Osteogenesis imperfecta Beagle type (OI)

Osteogenesis imperfecta Beagle 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 OI phenotype ranges from mild bone fragility to perinatal death due to innumerable fractures and severe deformity. OI 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.

References:

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.

Eckardt, J., Kluth, S., Dierks, C., Philipp, U., and Distl, O. (2013). Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet. Rec. 172, 364.

Seeliger, F., Leeb, T., Peters, M., Brügmann, M., Fehr, M., and Hewicker-Trautwein, M. (2003). Osteogenesis Imperfecta in Two Litters of Dachshunds. Vet Pathol 40, 530–539.