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Using CRISPR\/Cas9 genome editing, we generated a mouse model of 17q12Del syndrome on both inbred (C57BL\/6N) and outbred (CD-1) genetic backgrounds. On C57BL\/6N, the 17q12Del mice had severe head development defects, potentially mediated by haploinsufficiency of Lhx1, a gene within the interval that controls head development. Phenotypes included brain malformations, particularly disruption of the telencephalon and craniofacial defects. On the CD-1 background, the 17q12Del mice survived to adulthood and showed milder craniofacial and brain abnormalities. We report postnatal brain defects using automated magnetic resonance imaging-based morphometry. In addition, we demonstrate renal and blood glucose abnormalities relevant to RCAD. On both genetic backgrounds, we found sex-specific presentations, with male 17q12Del mice exhibiting higher penetrance and more severe phenotypes. Results from these experiments pinpoint specific developmental defects and pathways that guide clinical studies and a mechanistic understanding of the human 17q12Del syndrome. This mouse mutant represents the first and only experimental model to date for the 17q12 CNV disorder.<\/jats:p>\n               <jats:p>This article has an associated First Person interview with the first author of the paper.<\/jats:p>","DOI":"10.1242\/dmm.049752","type":"journal-article","created":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T09:39:18Z","timestamp":1668418758000},"source":"Crossref","is-referenced-by-count":7,"title":["17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis"],"prefix":"10.1242","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3561-3478","authenticated-orcid":false,"given":"Emily B.","family":"Warren","sequence":"first","affiliation":[{"name":"Brown University 1 Department of Molecular Biology, Cell Biology and Biochemistry , , Providence, RI 02912 , USA"},{"name":"Warren Alpert Medical School of Brown University 2 Department of Psychiatry and Human Behavior , , Providence, RI 02912 , USA"},{"name":"Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University 3 , Providence, RI 02912 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0745-9415","authenticated-orcid":false,"given":"Juan A.","family":"Briano","sequence":"additional","affiliation":[{"name":"Brown University 1 Department of Molecular Biology, Cell Biology and Biochemistry , , Providence, RI 02912 , USA"},{"name":"Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University 3 , Providence, RI 02912 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1504-3321","authenticated-orcid":false,"given":"Jacob","family":"Ellegood","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre (MICe), Hospital for Sick Children 4 , Toronto, ON M5T 3H7 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor","family":"DeYoung","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre (MICe), Hospital for Sick Children 4 , Toronto, ON M5T 3H7 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6164-2881","authenticated-orcid":false,"given":"Jason P.","family":"Lerch","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre (MICe), Hospital for Sick Children 4 , Toronto, ON M5T 3H7 , Canada"},{"name":"Wellcome Centre for Integrative Neuroimaging, The University of Oxford 5 , Oxford OX3 9DU , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3430-3520","authenticated-orcid":false,"given":"Eric M.","family":"Morrow","sequence":"additional","affiliation":[{"name":"Brown University 1 Department of Molecular Biology, Cell Biology and Biochemistry , , Providence, RI 02912 , USA"},{"name":"Warren Alpert Medical School of Brown University 2 Department of Psychiatry and Human Behavior , , Providence, RI 02912 , USA"},{"name":"Center for Translational Neuroscience, Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University 3 , Providence, RI 02912 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2022,12,13]]},"reference":[{"key":"2022121312494370400_DMM049752C1","doi-asserted-by":"publisher","first-page":"e4729","DOI":"10.1371\/journal.pone.0004729","article-title":"Genetic variation and population substructure in outbred CD-1 mice: implications for genome-wide association studies","volume":"4","author":"Aldinger","year":"2009","journal-title":"PLoS One"},{"key":"2022121312494370400_DMM049752C2","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1093\/brain\/awx040","article-title":"ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss","volume":"140","author":"Anttonen","year":"2017","journal-title":"Brain"},{"key":"2022121312494370400_DMM049752C3","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.mod.2014.12.003","article-title":"An epigenetic regulatory element of the Nodal gene in the mouse and human genomes","volume":"136","author":"Arai","year":"2015","journal-title":"Mech. 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