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Myotonia Congenita
Test number: 8022
Gene: MC
Price: £ 48.00 (including VAT)
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Breeds
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Australian Cattle Dog
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Border Collie
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Labrador Retriever
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Miniature Schnauzer
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The Disease |
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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.
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Description |
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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.
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Trait of Inheritance |
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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.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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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
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Price
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£ 48.00 (including VAT)
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