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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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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D1 |
| Mutation | c.370_371delTG |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | OI |
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 has been observed in a Japanese domestic cat, and is likely caused by a recessive mutation to the gene CREB3L1.
Clinical features
Affected kittens present with stunted growth, curved limbs, abnormal gait, and possibly constipation due to pelvic stenosis. The resulting complications can be life-threatening.
Additional information
References
Pubmed ID: 35168412
Year published: 2022
Omia ID: 2533
Omia variant ID: