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Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 14 |
| Mutation | c.3656_3859delinsTGTCATTGG |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | OI |
Informations générales
Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This variant of the disease is found in the Beagle, and is caused by a dominant mutation to the gene COL1A2. Closely related variants have also been found in the Chow Chow and Lagotto Romagnolo.
Caractéristiques cliniques
The main symptom for affected dogs is bone fragility, generally presenting as a history of broken bones. Primary teeth are usually tremendously thin-walled and brittle. Reduced density of bones and teeth can be seen with radiography.
Additional Information
Références
Pubmed ID: 11393792
Year published: 2001
Omia ID: 2112
Omia variant ID: 762