LABOKLIN (UK)| Genetic Diseases | Dogs| Myotonia Congenita
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Myotonia Congenita

Test number: 8022
Gene: MC
Price: £ 48.00 (including VAT)
Breeds
Australian Cattle Dog , Border Collie , Labrador Retriever , Miniature Schnauzer .
The Disease
Myotonia congenita is a hereditary pathogenic condition affecting skeletal muscle ion channels and is characterized by a delay of relaxation ot the skeletal muscles following an electical or mechanical stimulus or after cessation of voluntary activity. Myotonia congenita results from genetic defects in the skeletal muscle chloride ion channel and the ensuing reduced chloride ion conductance across the sarcolemma. Myotonic Miniature Schnauzers have hypertrophic skeletal muscles, difficulty in rising after a period of rest, a stiff and stilted gait when walking, and a bunnyhop type movement when running. In addition, there are increased respiratory sounds, difficulty when swalling, ptyalism, dental abnormalities and superior prognathism.
Trait of Inheritance
Myotonia congenita in Miniature Schnauzers is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

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 Myotonia Congenita. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / MC [ 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 Myotonia Congenita 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: MC / MC [ 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 Myotonia Congenita and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

Progress in molecular genetics has allowed the identification of the gene mutation responsible for Myotonia congenita in Miniature Schnauzers. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic. If a particularly valuable dog turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price
£ 48.00 (including VAT)

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