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Horse DNA testing illustration

Androgen Insensitivity Syndrome – AIS 2

Code: P309

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome.

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 Warmblood horses.

Specifications

Breeds

Warmblood
Gene

AR
Chromosome

X
Mutation

c.1630_1654del
Organ

Reproductive system
Specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

X-Linked Recessive
Also known as

AIS

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.

References

Pubmed ID: 28192783

Year published: 2017

Omia ID: 991

Omia variant ID:

Turnaround information

  • 15 working days