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Dog DNA testing illustration

Myotonia Congenita – Australian Cattle Dog and Border Collie

Code: H498

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open.

General information

In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open. The result is a delay in skeletal muscle relaxation, frequent contraction and muscle hypertrophy.

This variant of the disorder is caused by a recessive mutation to the gene CLCN1. It is found in the Australian Cattle Dog and the Border Collie.

Specifications

Breeds

Australian Cattle Dog, Border Collie
Gene

CLCN1
Chromosome

16
Mutation

c.2665insA
Organ

Muscles
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Dogs suffering from Myotonia Congenital show a stiff gait especially at the onset of movement and during rapid changes in posture (turning quickly, falling). The symptoms may diminish with exercise. Other symptoms are severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and hypersalivation. The symptoms start at a young age.

References

Pubmed ID: 17552451

Year published: 2007

Omia ID: 698

Omia variant ID:

Turnaround information

  • 15 working days