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Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.
This variant occurs in American Quarter Horses.
Clinical features
Clinical features are underdeveloped testicular-like structures in the area where ovaries were expected, higher testosterone values and potential increased risk for prostate cancer.
Additional information
References
Pubmed ID: 22095250
Omia ID: 991