Cerebellar hypoplasia (CH)

LABOKLIN Service ID: 8868

A mutation in the RELN gene has been identified in White Swiss Shepherd dogs that causes cerebellar hypoplasia (CH), a condition where the cerebellum does not develop fully. Affected puppies were born clinically normal, but then they failed to gain weight and developed progressive ataxia at around 2 weeks of age. Affected puppies showed difficulties in standing, walking in a straight line and latching onto the teat, even though the suckling reflex is good. Due to worsening of the symptoms, the puppies had to be euthanized at the age of 4 weeks. Post-mortem examination revealed abnormalities in the brains with severe CH with lissencephaly (abnormal structure of cortical surface folds) and moderate internal hydrocephalus with enlarged lateral vertricles and fourth ventricle.

Method	sequencing
Breed list	White Swiss Shepherd Dog
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab