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Neural tube defects (NTDs) are among the most common birth defects in humans. We previously reported a mouse mutant called tuft that arose spontaneously in our wild-type 3H1 colony. Adult tuft mice present midline craniofacial malformations with or without an anterior cephalocele. In addition, affected embryos presented neural tube closure defects resulting in insufficient closure of the anterior neuropore or exencephaly. Here, through whole-genome sequencing, we identified a nonsense mutation in the Tet1 gene, which encodes a methylcytosine dioxygenase (TET1), co-segregating with the tuft phenotype. This mutation resulted in premature termination that disrupts the catalytic domain that is involved in the demethylation of cytosine. We detected a significant loss of TET enzyme activity in the heads of tuft embryos that were homozygous for the mutation and had NTDs. RNA-Seq transcriptome analysis indicated that multiple gene pathways associated with neural tube closure were dysregulated in tuft embryo heads. Among them, the expressions of Cecr2, Epha7 and Grhl2 were significantly reduced in some embryos presenting neural tube closure defects, whereas one or more components of the non-canonical WNT signaling pathway mediating planar cell polarity and convergent extension were affected in others. We further show that the recombinant mutant TET1 protein was capable of entering the nucleus and affected the expression of endogenous Grhl2 in IMCD-3 (inner medullary collecting duct) cells. These results indicate that TET1 is an epigenetic determinant for regulating genes that are crucial to closure of the anterior neural tube and its mutation has implications to craniofacial development, as presented by the tuft mouse.<\/jats:p>","DOI":"10.1242\/dmm.024109","type":"journal-article","created":{"date-parts":[[2016,3,18]],"date-time":"2016-03-18T01:17:51Z","timestamp":1458263871000},"page":"585-596","source":"Crossref","is-referenced-by-count":17,"title":["A mutation in the <i>tuft<\/i> mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure"],"prefix":"10.1242","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6845-1754","authenticated-orcid":false,"given":"Keith S. K.","family":"Fong","sequence":"first","affiliation":[{"name":"John A. Burns School of Medicine, University of Hawai'i 1 Department of Anatomy, Biochemistry, and Physiology , , Honolulu, HI 96813 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-3545","authenticated-orcid":false,"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital, College of Medicine, University of Cincinnati 2 Department of Pediatrics, Division of Human Genetics , , 3333 Burnet Ave, ML 7003, Cincinnati, OH 45229 , USA"},{"name":"National Eye Institute, National Institutes of Health 3 Unit on Pediatric, Development & Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch , , Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vedbar S.","family":"Khadka","sequence":"additional","affiliation":[{"name":"John A. Burns School of Medicine, University of Hawai'i 4 Office of Biostatistics and Quantitative Health Sciences , , Honolulu, HI 96813 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Corley","sequence":"additional","affiliation":[{"name":"John A. Burns School of Medicine, University of Hawai'i 5 Epigenomics Research Program, Department of Native Hawaiian Health , , Honolulu, HI 96813 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alika K.","family":"Maunakea","sequence":"additional","affiliation":[{"name":"John A. Burns School of Medicine, University of Hawai'i 5 Epigenomics Research Program, Department of Native Hawaiian Health , , Honolulu, HI 96813 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Fogelgren","sequence":"additional","affiliation":[{"name":"John A. Burns School of Medicine, University of Hawai'i 1 Department of Anatomy, Biochemistry, and Physiology , , Honolulu, HI 96813 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital, College of Medicine, University of Cincinnati 2 Department of Pediatrics, Division of Human Genetics , , 3333 Burnet Ave, ML 7003, Cincinnati, OH 45229 , USA"},{"name":"School of Medicine, University of Maryland 6 Department of Otorhinolaryngology Head and Neck Surgery , , BioPark Bldg1, 800 West Baltimore Street, Room 404, Baltimore, MD 21201 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Lozanoff","sequence":"additional","affiliation":[{"name":"John A. 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