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Horse DNA testing illustration

Myotonia Congenita – New Forest Pony

Code: P882

74,72 €

Sample details

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

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Short description

Myotonia is a group muscle diseases that cause a disturbance in the development of chlorine channels.

General information

Myotonia is a group muscle diseases that cause a disturbance in the development of chlorine channels. Due to poorly developed chlorine channels, an uncontrolled muscle tension arises which worsens in an excited state.

This variant of the disease, observed in the New Forest Pony, is caused by a recessive mutation to the gene CLCN1.

Specifications

Breeds

New Forest Pony
Gene

CLCN1
Chromosome

4
Mutation

c.1775A>C
Organ

Muscles
Specimen

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

Autosomal Recessive

Clinical features

Most common clinical signs are the “recurrent episodes of recumbency and difficulty to rise due to muscle stiffness”. Occasionally, when the horse is stimulated, it "seemed hyperreactive and temporary protrusion of the third eyelid occurred due to retraction of the eye uni- or bilaterally".

References

Pubmed ID: 22197188

Year published: 2012

Omia ID: 698

Omia variant ID:

Turnaround information

  • 15 working days