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Dwarfism is a form of abnormal development in size and stature.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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 analysed in this test, is published by the University of Kentucky and named D5 or D5kyR. It is a mutation that emerged as a causal variant in that group and is independently segregating from the four previously found mutations (D1, D2, D3* and D4).
Clinical features
Affected horses show dwarfism phenotypes that range from abortus to viable offspring with evidence of skeletal dysplasia (dwarfism), while carriers of D5kyR may appear slightly smaller than average but are typically clinically healthy.
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
Year published: 2023
Omia ID: 1271
Omia variant ID: