Osteogenesis Imperfecta (OI) – Dachshund
Kodas: H431
Short description
Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | SERPINH1 |
| Chromosome | 21 |
| Mutation | c.977T>C |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | OI |
Clinical features
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.
References
Pubmed ID: 19629171
Year published: 2009
Omia ID: 1483
Omia variant ID:
Turnaround information
- 10 working days