Dog Achromatopsia Type 3 In German Shorthaired Pointer (PRAcd)

The DNA test for Achromatopsia Type 3 (PRAcd) in German Shorthaired Pointers is essential for responsible breeding. This genetic screening identifies carriers of the PRAcd mutation, which causes progressive vision loss and color blindness in affected dogs. Early detection through DNA testing helps breeders prevent passing this hereditary condition to future generations. By using the PRAcd test, owners can ensure healthier litters and maintain the breed’s overall well-being. Regular testing supports informed breeding decisions and promotes the longevity of German Shorthaired Pointers. Protect your dog’s vision and contribute to breed health with the Achromatopsia Type 3 DNA test.

Abbreviation : PRAcd

Analysed mutation : CNGB3 c.784G>A

Inheritance : Autosomal Recessive

Acronym

PRAcd

Observed frequency

Rare

Clinical severity

Moderate

Clinical classification

Ophthalmic Diseases

Analysed mutation

CNGB3 c.784G>A
p.(D262N)

Mode of inheritance

Autosomal Recessive

Test summary:

The DNA test for Achromatopsia Type 3 (PRAcd) in German Shorthaired Pointers helps identify carriers and affected dogs. This inherited condition causes complete color blindness and vision problems. Early testing allows breeders to make informed decisions to reduce the risk of passing the disorder. By screening breeding dogs, the prevalence of PRAcd can be minimized in future generations. Responsible breeding ensures healthier dogs with better quality of life.

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 Achromatopsia Type 3 in German Shorthaired Pointers

Achromatopsia Type 3, also known as Progressive Retinal Atrophy with complete color blindness (PRAcd), is a hereditary condition that affects the vision of German Shorthaired Pointers. This genetic disorder results from mutations in specific genes that are crucial for the proper functioning of photoreceptor cells in the retina, leading to vision impairment over time.

Symptoms of Achromatopsia Type 3

Dogs affected by Achromatopsia Type 3 typically exhibit symptoms such as a lack of color vision, difficulty seeing in bright light, and potential night blindness. Owners may notice that their dogs have trouble navigating their environment, particularly in brightly lit areas, as their ability to perceive colors is significantly diminished.

Genetic Basis of the Condition

This condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the dog to express the disease. Carriers, which have one normal and one mutated gene, do not show symptoms but can pass the condition to their offspring. Identifying carriers through DNA testing is essential for responsible breeding practices, as it helps prevent the propagation of the condition in future generations.

Impact on Quality of Life

While Achromatopsia Type 3 can lead to significant visual impairment, many dogs adapt well to their condition. Owners can assist by providing a safe environment and ensuring that their pets are comfortable in low-light conditions or areas with bright lighting. Understanding the limitations of their dog's vision allows owners to make necessary adjustments to enhance their pet's quality of life.

Management and Care

Managing a dog with Achromatopsia Type 3 primarily involves environmental modifications rather than medical interventions. Owners should ensure that their living space is free from obstacles that could pose a danger, as affected dogs may not respond to visual cues in the same way as their sighted counterparts. Regular veterinary check-ups are also advised to monitor the dog's overall eye health and address any other potential issues that may arise.

Conclusion

Achromatopsia Type 3 in German Shorthaired Pointers is a serious genetic condition that affects visual perception. Understanding the symptoms, genetic basis, and management strategies is crucial for owners and breeders alike. Through responsible breeding and proper care, the impact of this condition on affected dogs can be alleviated, allowing them to lead fulfilling lives despite their visual challenges.

Breed recognized for the test : Achromatopsia Type 3 In German Shorthaired Pointer (PRAcd)

German Shorthaired Pointer

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 PRAcd

Genotype

Status

🟡 N/N

Non-carrier - No Risk

🟡 N/PRAcd

Carrier - No Risk

❌ PRAcd/PRAcd

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/PRAcd (Carrier)

PRAcd/PRAcd (Affected)

DNA Test FAQ

What does this DNA test detect?

This DNA test detects the mutation associated with Achromatopsia Type 3 In German Shorthaired Pointer (PRAcd) 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 Autosomal Recessive.

Which mutation is analysed in this test?

This test analyses the mutation CNGB3 c.784G>A.

Is a carrier animal necessarily affected?

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

References

Sidjanin Duska J, Lowe Jennifer K, McElwee John L, Milne Bruce S, Phippen Taryn M, Sargan David R, Aguirre Gustavo D, Acland Gregory M, Ostrander Elaine A. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet. 2002 Aug 1;11(16):1823-33. doi: 10.1093/hmg/11.16.1823.

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