Skeletal Dysplasia 2 (SD2) – Labrador Retriever
Kodas: H510
Short description
Skeletal Dysplasia 2 (SD2) is a mild skeletal disorder in the Labrador Retriever that causes short-legged disproportionate dwarfism.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | COL11A2 |
| Chromosome | 12 |
| Mutation | c.143G>C |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | SD2 |
Clinical features
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.
References
Pubmed ID: 23527306
Year published: 2013
Omia ID: 1772
Omia variant ID:
Turnaround information
- 10 working days