Osteogenesis Imperfecta (OI) – Beagle
Code: H430
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | COL1A2 |
| Chromosome | 14 |
| Mutation | c.3656_3859delinsTGTCATTGG |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
| Also known as | OI |
Clinical features
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.
References
Pubmed ID: 11393792
Year published: 2001
Omia ID: 2112
Omia variant ID:
Turnaround information
- 15 working days