{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:59:09Z","timestamp":1762869549108,"version":"build-2065373602"},"reference-count":50,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T00:00:00Z","timestamp":1747872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic cause.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and pathological investigations were performed. Genetic investigations used linkage and autozygosity mapping followed by whole\u2010genome sequencing of 3 affected dogs and 1489 control dogs to identify disease\u2010associated variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three of 11 puppies in a litter of Weimaraner dogs exhibited an abnormal gait characterized by synchronized saltatorial locomotion. Their phenotype was tentatively termed congenital mirror movement disorder 1 (CMM1). The underlying genetic cause was identified as a 2\u2010bp duplication in <jats:italic>EFNB3<\/jats:italic> encoding ephrin\u2010B3, a transmembrane protein important for axon guidance and spinal midline barrier formation during neurodevelopment. The identified variant, XM_038536724.1:c.643_644dup, is predicted to lead to a frameshift and introduction of a premature stop codon XP_038392652.1:p.(Ala216Valfs*79). CMM1 is inherited as an autosomal recessive trait in these dogs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Similar to humans, CMMs may occur in dogs as an inherited disease as a result of a spontaneously arisen genetic variant. The CMM1 phenotype in dogs resembles the phenotype of experimentally induced <jats:italic>Efnb3<\/jats:italic><jats:sup><jats:italic>\u2212\/\u2212<\/jats:italic><\/jats:sup> knockout mice. So far, no human patients with <jats:italic>EFNB3<\/jats:italic>\u2010related CMMs have been reported. Our study provides the first naturally occurring large\u2010animal model for CMMs. <jats:italic>EFNB3<\/jats:italic> should be considered a candidate gene in human CMM patients with unclear disease etiology. \u00a9 2025 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30243","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T05:37:19Z","timestamp":1747892239000},"page":"1883-1891","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp><i>EFNB3<\/i><\/scp> Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7595-2817","authenticated-orcid":false,"given":"Cleo","family":"Schwarz","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7850-5269","authenticated-orcid":false,"given":"Florian","family":"Bartenschlager","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology Freie Universit\u00e4t Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3686-9993","authenticated-orcid":false,"given":"Olivia","family":"Kershaw","sequence":"additional","affiliation":[{"name":"Institute of Veterinary Pathology Freie Universit\u00e4t Berlin  Berlin 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