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The major clinical features of this syndrome include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. <jats:italic>MAF<\/jats:italic> has been identified as a causative gene of the syndrome, and heterozygous variants owing to impairment in glycogen synthase kinase 3 (GSK3)\u2010mediated MAF phosphorylation shows related disorders. However, the underlying mechanisms of these types of disorders in affected individuals remain poorly understood. To explore the underlying mechanisms and discover new phenotypes, a murine model with a Maf mutation on a GSK3 phosphorylation motif, p.Thr58Ile, was generated using CRISPR\u2010Cas9 gene editing. This is a homologous mutation to that in human patients. Our murine model exhibited similar phenotypes to those in humans, such as lens abnormalities, short stature, growth retardation, and abnormal skull morphology. The murine model showed decreased brain volume and malocclusion. Considering the sequencing and genotyping data, our models were successfully generated for the first time (to the best of our knowledge). Therefore, this study offers new and unique functional insights into human and murine MAF and novel clinical values of MAF pathogenic variants associated with changes in the functions of several organs based on a viable murine model.<\/jats:p>","DOI":"10.1002\/ajmg.a.63220","type":"journal-article","created":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T11:22:14Z","timestamp":1682508134000},"page":"1878-1888","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Generation and mutational analysis of a transgenic murine model of the human <i>MAF<\/i> mutation"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3151-507X","authenticated-orcid":false,"given":"Mitsunori","family":"Fujino","sequence":"first","affiliation":[{"name":"Department of Anatomy and Embryology University of Tsukuba  Ibaraki Japan"},{"name":"Human Biology School of Integrative and Global Majors, University of 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