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Dog DNA testing illustration

Cerebellar Hypoplasia (CH) – White Swiss Shepherd

Code: H992

74,72 €

Sample details

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

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Short description

Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the hindbrain) fails to properly develop.

General information

Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the hindbrain) fails to properly develop. In the White Swiss Shepherd, a variant of the disorder that includes lissencephaly (development of a smooth brain) is caused by a mutation to the gene RELN, which is probable autosomal recessive.

Specifications

Breeds

White Swiss shepherd
Gene

RELN
Chromosome

18
Mutation

c.2839delG
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

CH

Clinical features

Affected puppies fail to properly gain weight and begin developing progressive ataxia (loss of coordination) at an age of around 2 weeks. They have difficulty standing and walking straight, as well as difficulty nursing. The disorder is severe, and euthanasia is likely necessary within the first month of life.

References

Pubmed ID: 37334487

Year published: 2023

Omia ID: 1867

Omia variant ID:

Turnaround information

  • 15 working days