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Dwarfism is a form of abnormal development in size and stature.
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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. The mutation tested here is published from the University of Kentucky and named D5. It is a mutation that is independently segregating from the previously four found mutations (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. The other four variants found in ACAN (D1, D2, D3* and D4) can be tested with P306.
D5 was published in a thesis by John Edmund Eberth from the University of Kentucky. The information of this test will be checked over time for validity.
References
Pubmed ID: Thesis University of Kentucky John Edmund Eberth
Omia ID: 1271