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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 recent common ancestor on both sides of their pedigree. Whole genome sequencing was conducted for 10 dogs in this family, and filtering of these data based on a recessive transmission hypothesis highlighted five protein\u2010altering candidate variants \u2013 including a frameshift\u2010deletion of the Reelin (<jats:italic>RELN<\/jats:italic>) gene (p.Val947*). Given the status of <jats:italic>RELN<\/jats:italic> as a gene responsible for cerebellar hypoplasia in humans, sheep and mice, these data strongly suggest the loss\u2010of\u2010function variant as underlying these effects. This variant has not been found in other dog breeds nor in a cohort of European White Swiss Shepherds, suggesting a recent mutation event. This finding will support the genotyping of a more diverse sample of dogs, and should aid future management of the harmful allele through optimised mating schemes.<\/jats:p>","DOI":"10.1111\/age.13336","type":"journal-article","created":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T07:13:55Z","timestamp":1687158835000},"page":"632-636","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A frameshift\u2010deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9044-047X","authenticated-orcid":false,"given":"Mathew D.","family":"Littlejohn","sequence":"first","affiliation":[{"name":"AL Rae Centre for Genetics and Breeding Massey University  Hamilton New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Sneddon","sequence":"additional","affiliation":[{"name":"AL Rae Centre for Genetics and Breeding Massey University  Hamilton New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keren","family":"Dittmer","sequence":"additional","affiliation":[{"name":"School of Veterinary Science Massey University  Palmerston North New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Keehan","sequence":"additional","affiliation":[{"name":"Te Whatu Ora Health New Zealand  Hamilton New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Stephen","sequence":"additional","affiliation":[{"name":"AL Rae Centre for Genetics and Breeding Massey University  Hamilton New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorian","family":"Garrick","sequence":"additional","affiliation":[{"name":"AL Rae Centre for Genetics and Breeding Massey University  Hamilton New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"e_1_2_6_3_1","unstructured":"Broad Institute. 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