Horse Androgen Insensitivity Syndrome In Warmblood (AIS-W)

The Androgen Insensitivity Syndrome (AIS) DNA test in Warmblood horses is essential for accurate genetic screening and breeding decisions. AIS affects the horse’s response to male hormones, potentially leading to infertility or ambiguous sexual development. By using the AIS DNA test, breeders can identify carriers and avoid mating pairs that may produce affected offspring. This test ensures healthier Warmblood populations and supports responsible breeding practices. Early detection through AIS testing helps maintain the breed’s quality and performance standards. Trust reliable laboratories offering precise AIS DNA testing for Warmblood horses. Optimize your breeding program with comprehensive genetic insights today.

Abbreviation : AIS-W

Analysed mutation : AR c.1630_1654del

Inheritance : X-Linked Recessive

Acronym

AIS-W

Observed frequency

Normal

Clinical severity

Moderate

Clinical classification

Endocrine Diseases

Analysed mutation

AR c.1630_1654del

Mode of inheritance

X-Linked Recessive (Complete)

Test summary:

The Androgen Insensitivity Syndrome (AIS) DNA test in Warmblood horses helps identify individuals with this genetic condition, which affects sexual development. AIS occurs when a horse is genetically male (XY) but is resistant to male hormones, leading to female or ambiguous physical traits. Testing allows breeders to detect carriers and avoid breeding affected horses, ensuring healthier offspring. Early identification through DNA testing supports better management and breeding decisions. This test is crucial for maintaining the integrity and health of Warmblood populations.

Available from the pack : Basic

This DNA test is included starting from our pack Basic — and is also part of the packs Basic, Standard, Advanced, Complete.

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Understanding Androgen Insensitivity Syndrome (AIS) in Horses

Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects the development of sexual characteristics in horses. This disorder is primarily characterized by a resistance to androgens, which are male hormones that play a crucial role in the development of male physical traits. In horses affected by AIS, even though the genetic makeup may indicate a male (XY chromosomes), the physical characteristics can appear more feminine due to the body's inability to respond to androgens.

Genetic Basis of AIS

The condition is linked to mutations in the androgen receptor gene, which impairs the horse's ability to utilize androgens effectively. As a result, horses with AIS may not exhibit typical male behaviors or physical traits, such as the development of stallion-like musculature or reproductive organs. Instead, these horses often present with external characteristics that resemble those of females, leading to potential challenges in breeding and management.

Clinical Signs of AIS

Horses with AIS may display a variety of clinical signs, including the presence of undescended testes (cryptorchidism), an absence of fully developed male reproductive organs, and external genitalia that appear female. Additionally, affected horses may not exhibit stallion-like behaviors, which can complicate their use in breeding programs. It is important for owners and breeders to recognize these signs early to make informed decisions regarding the management of affected horses.

Importance of DNA Testing for AIS

DNA testing for Androgen Insensitivity Syndrome is crucial for identifying carriers and affected individuals within the Warmblood population. By understanding the genetic status of horses, breeders can make more informed breeding decisions, ultimately aiming to reduce the prevalence of AIS in future generations. The availability of a reliable DNA test allows for proactive measures to be taken, ensuring the health and welfare of the horses involved.

Management and Implications of AIS

Managing horses with AIS involves a comprehensive approach that includes proper veterinary care and consideration of the horse's unique needs. Affected horses may require specific management strategies to ensure their well-being. For breeders, understanding the genetic implications of AIS is essential for maintaining the integrity of breeding programs and preventing the continuation of the syndrome within the population.

Conclusion

Androgen Insensitivity Syndrome represents a significant genetic consideration in the equine world, particularly within Warmblood breeds. By investing in DNA testing and understanding the implications of this syndrome, breeders and owners can work together to promote healthier breeding practices and improve the overall genetics of their horses.

Breed recognized for the test : Androgen Insensitivity Syndrome In Warmblood (AIS-W)

Warmblood

Interpretation of genotypes Genotype Status Learn more about the interpretation of genotypes FAQ: understanding the interpretation of result What does “Clear” mean? The animal does not carry the mutation. It will not develop the disease and will not pass it on. Is a “Carrier” serious? No. The animal is generally healthy but can transmit the mutation to its offspring. What if an animal is “Affected”? It carries two mutated copies. Clinical signs are expected depending on the disease. It should not be bred. Why are there differences between male / female? Some diseases are sex-linked, so their expression varies depending on the animal’s sex. The animal has two normal copies of the gene. No risk of developing or transmitting the disease. Heterozygous carrier: one mutated copy. The animal is usually not clinically affected but can pass the mutation to offspring. Male carrier or affected depending on the inheritance mode. Males have only one X or Y chromosome. Heterozygous female carrier: one mutated copy. She can pass the mutation on and may sometimes show mild clinical signs depending on the condition. Two mutated copies of the gene. The animal is at risk of developing the associated condition.

🧬 Interpretation of genotypes AIS-W

Genotype

Status

🟡 N/N

Non-carrier - No Risk

❌ ♂ N/AIS-W

Affected - At Risk

🟡 ♀ N/AIS-W

Carrier - No Risk

❌ AIS-W/AIS-W

Affected - At Risk

FAQ: understanding the interpretation

What does “Clear” mean?

The animal does not carry the mutation. It will not develop the disease and will not pass it on.

Is a “Carrier” serious?

No. The animal is generally healthy but can transmit the mutation to its offspring.

What if an animal is “Affected”?

It carries two mutated copies. Clinical signs are expected depending on the disease. It should not be bred.

Why are there differences between male / female?

Some diseases are sex-linked, so their expression varies depending on the animal’s sex.

Genotype Forecast for Offspring Mother Father Non-carrier Carrier Affected Favorable cross: majority Carrier risk is predominant. Majority affected Filter by mother's genotype Filter by father's genotype All Predict Offspring The animal has two normal copies of the gene. No risk of developing or transmitting the disease. Heterozygous carrier: one mutated copy. The animal is usually not clinically affected but can pass the mutation to offspring. Male carrier or affected depending on the inheritance mode. Males have only one X or Y chromosome. Heterozygous female carrier: one mutated copy. She can pass the mutation on and may sometimes show mild clinical signs depending on the condition. Two mutated copies of the gene. The animal is at risk of developing the associated condition.

Predict Offspring

Filter by mother's genotype Filter by father's genotype

N/N (Non-carrier)

N/AIS-W (Carrier)

AIS-W/AIS-W (Affected)

DNA Test FAQ

What does this DNA test detect?

This DNA test detects the mutation associated with Androgen Insensitivity Syndrome In Warmblood (AIS-W) in order to identify clear, carrier, or at-risk animals.

Why test a breeding animal?

DNA testing helps breeders plan safer matings and reduce the risk of transmitting the mutation to offspring.

What is the inheritance mode of this test?

The inheritance mode reported for this test is X-Linked Recessive.

Which mutation is analysed in this test?

This test analyses the mutation AR c.1630_1654del.

Is a carrier animal necessarily affected?

Not necessarily. Interpretation depends on the inheritance pattern and the resulting genotype.

References

Welsford G Eastman, Munk Rikke, Villagómez Daniel A F, Hyttel Poul, King W Allan, Revay Tamas. Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene. Sex Dev. 2017;11(1):40-45. doi: 10.1159/000455114. Epub 2017 Feb 14.

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