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Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 21 |
| Mutation | c.977T>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | OI |
Informations générales
Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.
This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.
Caractéristiques cliniques
This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.
Additional Information
Références
Pubmed ID: 19629171
Year published: 2009
Omia ID: 1483
Omia variant ID: 25