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CH

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"A genetic mutation in the RELN gene has been discovered in White Swiss Shepherd dogs, resulting in cerebellar hypoplasia (CH), a condition in which the cerebellum fails to fully develop. Despite being born healthy, affected puppies encountered difficulties such as weight gain failure and progressive ataxia at approximately 2 weeks of age. These puppies had trouble standing, walking in a straight line, and latching onto the breast, even though their suckling reflex was normal. Affected puppies had to be euthanised aged four weeks due to worsening symptoms. A post-mortem examination highlighted brain abnormalities, including severe CH with lissencephaly (anomalies of the cortical surface folds) and moderate internal hydrocephalus, characterised by enlarged lateral ventricles and fourth ventricle" (LABOKLIN (UK)| Genetic Diseases | Dogs| Cerebellar Hypoplasia (CH), n.d.)

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(Dittmer et al., 2023)

References:

Dittmer, K., Sneddon, N. W., & Massey University. (2023, June). A frameshift‐deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs. ResearchGate. https://www.researchgate.net/publication/371694024_A_frameshift-deletion_mutation_in_Reelin_causes_cerebellar_hypoplasia_in_White_Swiss_Shepherddogs

LABOKLIN (UK)| Genetic Diseases | Dogs| Cerebellar Hypoplasia (CH). (n.d.). https://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8868

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