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LABOKLIN (UK)| Genetic Diseases | Dogs| Familial Congenital Methemoglobinemia (MetHg)
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Familial Congenital Methemoglobinemia (MetHg)

Test number: 8870
Gene: CYB5R3
Price: £ 48.00 (including VAT)
Breed
Pomeranian .
The Disease

Familial Congenital Methemoglobinemia (MetHg)

Methemoglobinemia (Methaemoglobinemia) is an inherited disease affecting the Pomerianian breed. It is characterized by an increase in the concentration of oxidized hemoglobin in the blood.

A variant in the CYB5R3 gene was found in Pomeranians to cause methemoglobinemia (MetHg).

Methemoglobin impairs the normal transport of oxygen to the tissues, leading to cyanosis (bluish-purple hue to the skin) and exercise intolerance. Other symptomps seen include coughing, shortness of breath and increased heart rate. Physical examination of affected dogs showed a bluish discoloration of dog's oral mucous membranes, tongue, and lower abdominal skin, while no cardiac or pulmonary abnormalities were detected on auscultation.

Blood examinations showed a notably lower b5R (NADH-cytochrome b5 reductase) level and the colour of the blood was much darker red to brownish compared to healthy dogs.

During surgery, one affected dog¿s percutaneous oxygen saturation fell to 90% (reference range, 96 - 100%), which could not be explained by surgical or anaesthetic complications.

Prevalence, we currently don't have information about the prevalence of this variant in the breed.

Trait of Inheritance
Austosomal recessive trait

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Familial Congenital Methemoglobinemia (MetHg). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CYB5R3 [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Familial Congenital Methemoglobinemia (MetHg) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: CYB5R3 / CYB5R3 [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Familial Congenital Methemoglobinemia (MetHg) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price
£ 48.00 (including VAT)

To order:




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