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Oculoskeletal Dysplasia 1 (OSD 1) is a developmental disorder that causes eye defects and skeletal deformities.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Oculoskeletal Dysplasia 1 (OSD 1) is a developmental disorder that causes eye defects and skeletal deformities. This variant, found in the Northern Inuit Dog, is caused by a recessive mutation to the gene COL9A3. A related variant also occurs in the Labrador Retriever.
Clinical features
Affected dogs have skeletal abnormalities such as short stature and abnormally angular/splayed limbs. Oculoskeletal Dysplasia 1 eye defects include bulging eyes, cataracts and lens coloboma (deformed irises).
Additional information
References
Pubmed ID: 31415586
Omia ID: 1522
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