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A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs.

Animal genetics - 1 Oct 2023

Littlejohn Mathew D, Sneddon Nick, Dittmer Keren, Keehan Mike, Stephen Melissa, Drögemüller Michaela, Garrick Dorian

Abstract excerpt

Cerebellar hypoplasia is a heterogeneous neurological condition in which the cerebellum is smaller than usual or not completely developed. The condition can have genetic origins, with Mendelian-effect mutations described in several mammalian species. Here, we describe a genetic investigation of cerebellar hypoplasia in White Swiss Shepherd dogs, where two affected puppies were identified from a litter with a...

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PMID: 37334487
DOI: 10.1111/age.13336

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