Osteogenesis Imperfecta Dachshund Type (OI)

43.90 € inc. Vat

Acronyms: OI
Gene: SERPINH1
Mutation: Point mutation
Mode of inheritance: Autosomal recessive
Breeds: Daschund

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Product Description

Osteogenesis Imperfecta Dachshund type (OI)

Osteogenesis Imperfecta Dachshund 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 stabilizes 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.

OI-affected dachshunds show typical clinical findings, such as reduced agility, signs of pain when manipulated, brittle and translucent teeth, joint hyperlaxity, spontaneous fractures in long bones and ribs, reduced radio-opacity, but no aberrant hematologic data. (Eckardt et al. 2013)

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.