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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Dwarfism is a form of abnormal development in size and stature. Chondrodysplastic dwarfism can be caused by mutations in the aggrecan (ACAN) gene which inherits in a recessive way. This gene is essential for proper functioning of the articular cartilage. Therefore, any mutations in the ACAN-gene can lead to abnormalities in skeletal development. This disease is described to be caused by four independently segregating mutations in the ACAN-gene; D1, D2, D3* and D4.
Clinical features
Dwarf phenotypes range from abortus to viable offspring with evidence of skeletal dysplasia. Dwarfism affects stature, size and can have negative effect on general health.
Additional information
This test does not cover all possible test for dwarfism and skeletal dysplasia in horses. To determine the influences on the phenotype, according to a genome wide association study, all four variants found in ACAN (D1, D2, D3* and D4) should be tested.
References
Pubmed ID: 27942904
Omia ID: 1271