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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1276G>C |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
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.
Caractéristiques cliniques
Within the first months of life, affected puppies show reduced growth, weak and discoloured teeth (dentinogenesis imperfecta) and easily suffer bone fractures.
Additional Information
Références
Pubmed ID: 11147834
Year published: 2000
Omia ID: 2126
Omia variant ID: 959