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Dog DNA testing illustration

Hereditary Ataxia (KCNIP4-related) – Norwegian Buhund

Code: H905

74,72 €

Sample details

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

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Short description

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death.

General information

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death. This variant of the disease, found in the Norwegian Buhund, is caused by a recessive mutation to the gene KCNIP4.

Specifications

Breeds

Norwegian Buhund
Gene

KCNIP4
Chromosome

3
Mutation

c.436T>C
Organ

Nervous System
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies begin displaying symptoms within the first 12 weeks of life. The main signs of the disorder are a broad stance, fine tremors of the head, ataxia (loss of coordination) of the body, absent menace response, and hypermetria (overextension of the limbs while stepping). The disease is slowly progressive, and euthanasia might be necessary on humane grounds.

References

Pubmed ID: 31999692

Year published: 2020

Omia ID: 2240

Omia variant ID:

Turnaround information

  • 15 working days