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Skeletal Dysplasia 2 (SD2) is a mild skeletal disorder in the Labrador Retriever that causes short-legged disproportionate dwarfism.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 12 |
| Mutation | c.143G>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | SD2 |
Informations générales
Skeletal Dysplasia 2 (SD2) is a mild skeletal disorder in the Labrador Retriever that causes short-legged disproportionate dwarfism. It is caused by a recessive mutation to the gene COL11A2. SD2 is distinct from Oculoskeletal Dysplasia (OSD), which causes severe eye defects as well as short legs.
Caractéristiques cliniques
Affected dogs develop relatively short legs, while retaining a normal body length and width. SD2-affected leg bones are shorter and slightly more bent than those of unaffected dogs, with the front legs being more affected.
Additional Information
Références
Pubmed ID: 23527306
Year published: 2013
Omia ID: 1772
Omia variant ID: 78