Dog Congenital Methemoglobinemia Variant 1 (CM1)

Discover the importance of the DNA test for Congenital Methemoglobinemia Variant 1 (CM1) in dogs, a genetic disorder affecting oxygen transport in the blood. Early detection through this test helps breeders and veterinarians identify carriers and affected dogs, ensuring healthier breeding decisions. By screening for CM1, you can prevent the inheritance of this serious condition, improving your dog's quality of life. Our accurate and reliable DNA test provides quick results, making it an essential tool for responsible dog breeding. Protect your furry friend’s health with the CM1 DNA test today. Stay informed and promote genetic wellness in your canine companions.

Abbreviation : CM1

Analysed mutation : CYB5R3 c.580A>C

Inheritance : Autosomal Recessive

Acronym

CM1

Observed frequency

Rare

Clinical severity

Moderate

Clinical classification

Haematological Diseases

Analysed mutation

CYB5R3 c.580A>C
p.(I194L)

Mode of inheritance

Autosomal Recessive

Test summary:

Congenital Methemoglobinemia Variant 1 (CM1) in dogs is a genetic disorder that affects the blood's ability to carry oxygen efficiently. This condition is caused by mutations in specific genes responsible for hemoglobin function. A DNA test can identify carriers and affected dogs, helping breeders make informed decisions. Early detection through testing is crucial to prevent passing the disorder to offspring. Managing CM1 improves the health and quality of life for affected dogs.

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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Introduction to Congenital Methemoglobinemia Variant 1 (CM1)

Congenital Methemoglobinemia Variant 1 (CM1) is a genetic disorder that affects the ability of hemoglobin in red blood cells to carry oxygen effectively. This condition is caused by mutations in the gene responsible for producing an enzyme known as cytochrome b5 reductase, which plays a crucial role in maintaining hemoglobin in its functional state. In affected dogs, the inability to reduce methemoglobin back to its oxygen-carrying form leads to a range of clinical symptoms.

Clinical Signs and Symptoms

Dogs with CM1 may exhibit a variety of clinical signs, primarily due to the reduced oxygen-carrying capacity of their blood. Common symptoms include cyanosis, which is a bluish tint to the gums and mucous membranes, lethargy, weakness, and exercise intolerance. In severe cases, affected dogs can experience respiratory distress, increased heart rate, and even collapse. The severity of symptoms can vary depending on the extent of the condition and the individual dog's health.

Diagnostic Approaches

Diagnosis of CM1 is typically based on clinical signs and a thorough evaluation of the dog's medical history. A veterinarian may perform blood tests to check for elevated levels of methemoglobin. However, a definitive diagnosis is often achieved through genetic testing, which can identify specific mutations associated with the CM1 condition. This testing allows for early identification of affected individuals and enables informed breeding decisions to minimize the prevalence of the disorder.

Management and Treatment Options

While there is currently no cure for CM1, management strategies focus on alleviating symptoms and improving the quality of life for affected dogs. This may include providing supplemental oxygen during periods of distress, avoiding strenuous activities, and ensuring a stress-free environment. In some cases, medications such as methylene blue may be administered under veterinary guidance to help reduce methemoglobin levels, although this treatment is not universally effective and should be used cautiously.

Conclusion

Congenital Methemoglobinemia Variant 1 (CM1) is a serious genetic condition that can significantly impact a dog's health and well-being. Early diagnosis through DNA testing and appropriate management strategies are essential for improving outcomes for affected dogs. Continued research and education about CM1 can help pet owners and breeders make informed decisions to better understand and address this condition.

Breed recognized for the test : Congenital Methemoglobinemia Variant 1 (CM1)

Aussiedoodle
Bernedoodle
Bordoodle
Cavapoo
Cavapoochon
Chihuahua
Cockapoo
Goldendoodle
Irishdoodle
Maltipoo
Miniature Poodle
Mixed Breed
Pomeranian
Pomsky
Poodle
Rat Terrier
Schnoodle
Sheepadoodle
Toy Poodle
Yorkiepoo

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 CM1

Genotype

Status

🟡 N/N

Non-carrier - No Risk

🟡 N/CM1

Carrier - No Risk

❌ CM1/CM1

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/CM1 (Carrier)

CM1/CM1 (Affected)

DNA Test FAQ

What does this DNA test detect?

This DNA test detects the mutation associated with Congenital Methemoglobinemia Variant 1 (CM1) 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 CYB5R3 c.580A>C.

Is a carrier animal necessarily affected?

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

References

Shino H, OtsukaYamasaki Y, Sato T, Ooi K, Inanami O, Sato R, Yamasaki M. Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. J Vet Intern Med. 2018 Jan;32(1):165-171. doi: 10.1111/jvim.15031. Epub 2018 Jan 22.

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