Osteogenesis Imperfecta (OI) – Golden Retriever
Kodas: H381
Short description
Osteogenesis Imperfecta, 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, sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This severe variant of the disorder, Osteogenesis Imperfecta Type III, is caused by a dominant mutation to the COL1A1 gene, and has been observed in the Golden Retriever.
Specifications
| Breeds | |
|---|---|
| Gene | COL1A1 |
| Chromosome | 9 |
| Mutation | c.1276G>C |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
Clinical features
Within the first months of life, affected puppies show reduced growth, weak and discoloured teeth (dentinogenesis imperfecta) and easily suffer bone fractures.
References
Pubmed ID: 11147834
Year published: 2000
Omia ID: 2126
Omia variant ID:
Turnaround information
- 10 working days