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Biallelic\n                      <jats:italic>AMBN<\/jats:italic>\n                      defects cause non\u2010syndromic autosomal recessive amelogenesis imperfecta. Homozygous\n                      <jats:italic>Ambn<\/jats:italic>\n                      mutant mice expressing an internally truncated AMBN protein deposit only a soft mineral crust on the surface of dentin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We characterized a family with hypoplastic amelogenesis imperfecta caused by\n                      <jats:italic>AMBN<\/jats:italic>\n                      compound heterozygous mutations (c.1061T&gt;C; p.Leu354Pro\/ c.1340C&gt;T; p.Pro447Leu). We generated and characterized\n                      <jats:italic>Ambn<\/jats:italic>\n                      knockout\/NLS\u2010lacZ (\n                      <jats:italic>Ambn<\/jats:italic>\n                      <jats:sup>lacZ\/lacZ<\/jats:sup>\n                      ) knockin mice.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      No AMBN protein was detected using immunohistochemistry in null mice. \u00df\u2010galactosidase activity was specific for ameloblasts in incisors and molars, and islands of cells along developing molar roots.\n                      <jats:italic>Ambn<\/jats:italic>\n                      <jats:sup>lacZ\/lacZ<\/jats:sup>\n                      7\u2010week incisors and unerupted (D14) first molars showed extreme enamel surface roughness. No abnormalities were observed in dentin mineralization or in nondental tissues. Ameloblasts in the\n                      <jats:italic>Ambn<\/jats:italic>\n                      <jats:sup>lacZ\/lacZ<\/jats:sup>\n                      mice were unable to initiate appositional growth and started to degenerate and deposit ectopic mineral. No layer of initial enamel ribbons formed in the\n                      <jats:italic>Ambn<\/jats:italic>\n                      <jats:sup>lacZ\/lacZ<\/jats:sup>\n                      mice, but pockets of amelogenin accumulated on the dentin surface along the ameloblast distal membrane and within the enamel organ epithelia (EOE). NLS\u2010lacZ signal was positive in the epididymis and nasal epithelium, but negative in ovary, oviduct, uterus, prostate, seminal vesicles, testis, submandibular salivary gland, kidney, liver, bladder, and bone, even after 15\u00a0hr of incubation with X\u2010gal.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.929","type":"journal-article","created":{"date-parts":[[2019,8,11]],"date-time":"2019-08-11T23:01:50Z","timestamp":1565564510000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["<i>AMBN<\/i>\n                    mutations causing hypoplastic amelogenesis imperfecta and\n                    <i>Ambn<\/i>\n                    knockout\u2010NLS\u2010lacZ knockin mice exhibiting failed amelogenesis and\n                    <i>Ambn<\/i>\n                    tissue\u2010specificity"],"prefix":"10.1002","volume":"7","author":[{"given":"Tian","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, Faculty of Medicine McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia S","family":"Richardson","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry Ann Arbor Michigan"},{"name":"Department of Pediatric Dentistry, School and Hospital of Stomatology Peking University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orofacial Sciences UCSF School of Dentistry San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih\u2010Kai","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dentistry National Taiwan University School of Dentistry Taipei City Taiwan R.O.C"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung\u2010Wook","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Department of Pediatric Dentistry &amp; 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