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Dwarfism is a form of abnormal development in size and stature.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
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).
Caractéristiques cliniques
Les phénotypes nains vont de l’avortement à la progéniture viable avec des signes de dysplasie squelettique. Le nanisme affecte la stature, la taille et peut avoir un effet négatif sur la santé générale.
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.
Références
Pubmed ID: Thesis University of Kentucky John Edmund Eberth
Omia ID: 1271