Cerebellar hypoplasia / lissencephaly / CH (RELN-related) - White Swiss Shepherd Dog

What does this test analyse?

This genetic test analyses the RELN c.2839delG variant in the White Swiss Shepherd Dog. The disorder is described as cerebellar hypoplasia with lissencephaly, abbreviated CH.

What does this mean for the dog?

In CH, the cerebellum does not develop sufficiently. This RELN-related form may also include lissencephaly, internal hydrocephalus and abnormal cerebral cortex development. Affected puppies may appear normal at birth, but fail to gain weight, develop progressive ataxia from about two weeks of age, have difficulty standing and walking straight and may struggle to nurse.

Practical value of this test

• Breeders can identify carriers in the White Swiss Shepherd population.
• The result helps avoid carrier x carrier matings and prevent severely affected litters.
• In young puppies with ataxia, poor growth or nursing problems, the test gives a clear genetic explanation.
• The test supports transparent breeding plans without automatically losing valuable carrier lines.

Inheritance and result

The trait is autosomal recessive. N/N means clear, N/CH means carrier and CH/CH causes RELN-related cerebellar hypoplasia/lissencephaly.