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P313

Dwarfism is a form of abnormal development in size and stature.

10 working days

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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. This disease is described to be caused by four independently segregating mutations in the ACAN-gene; D1, D2, D3* and D4.

Caractéristiques cliniques

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.

Références

Pubmed ID: 27942904

Omia ID: 1271

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