title: Micrognathia in mouse models of ciliopathies.
abstract: Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton. We then determine the critical tissue interactions using mice carrying a conditional mutation in the cilia gene Ofd1 Our studies highlight the usefulness of the Ofd1 mouse model and illustrate long-term possibilities for understanding the cellular and biochemical events underlying micrognathia.
authors.affiliation: Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K.
authors.forename: Hadeel
authors.initials: H
authors.lastname: Adel Al-Lami
authors.affiliation: Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K.
authors.forename: William B
authors.initials: WB
authors.lastname: Barrell
authors.affiliation: Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K.
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Liu
mesh_terms: D000818:Animals; D002923:Cilia / Q000378:metabolism; D000072661:Ciliopathies / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D008334:Mandible / Q000196:embryology / Q000378:metabolism; D051379:Mice; D008844:Micrognathism / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011506:Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: C508360:OFD1 protein, mouse; D011506:Proteins
keywords: Hedgehog; cilia; ciliopathy; craniofacial; micrognathia; neural crest cells