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O-GlcNAcylation is catalyzed by O-GlcNAc transferase (OGT) and reversed by O-GlcNAcase (OGA). Missense variants of OGT have recently been shown to segregate with an X-linked syndromic form of intellectual disability, OGT-linked congenital disorder of glycosylation (OGT-CDG). Although the existence of OGT-CDG suggests that O-GlcNAcylation is crucial for neurodevelopment and\/or cognitive function, the underlying pathophysiologic mechanisms remain unknown. Here we report a mouse line that carries a catalytically impaired OGT-CDG variant. These mice show altered O-GlcNAc homeostasis with decreased global O-GlcNAcylation and reduced levels of OGT and OGA in the brain. Phenotypic characterization of the mice revealed lower body weight associated with reduced body fat mass, short stature and microcephaly. This mouse model will serve as an important tool to study genotype-phenotype correlations in OGT-CDG in vivo and for the development of possible treatment avenues for this disorder.<\/jats:p>","DOI":"10.1242\/dmm.050671","type":"journal-article","created":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T03:27:32Z","timestamp":1712114852000},"source":"Crossref","is-referenced-by-count":19,"title":["Neurodevelopmental defects in a mouse model of\n                    <i>O-<\/i>\n                    GlcNAc transferase intellectual disability"],"prefix":"10.1242","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0965-9165","authenticated-orcid":false,"given":"Florence","family":"Authier","sequence":"first","affiliation":[{"name":"Aarhus University 1 Department of Molecular Biology and Genetics , , 8000 Aarhus , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Ondruskova","sequence":"additional","affiliation":[{"name":"Charles University and General University Hospital in Prague 2 Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine , , Prague , 128 08 Praha 2, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew T.","family":"Ferenbach","sequence":"additional","affiliation":[{"name":"Aarhus University 1 Department of Molecular Biology and Genetics , , 8000 Aarhus , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison D.","family":"McNeilly","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Dundee 3 Division of Systems Medicine , , Dundee DD1 9SY , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1499-6908","authenticated-orcid":false,"given":"Daan M. 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