DEFECTIVE TOOTH MORPHOGENESIS IN THE IFT88ORPK MUTANT MOUSE

IFT88ORPK 突变小鼠的牙齿形态发生缺陷

• 批准号: 8360485
• 负责人: Courtney Jeanne Haycraft
• 金额: $ 0.8万
• 依托单位: MEDICAL UNIVERSITY OF SOUTH CAROLINA
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-06-01 至 2012-09-04
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8360485
• 关键词: Bardet-Biedl Syndrome; Centers of Research Excellence; Cilia; Cystic kidney; Defect; Dentition; Development; Disease; Ellis-Van Creveld Syndrome; Funding; Goals; Grant; Hydrocephalus; Mammalian Cell; Modeling; Morphogenesis; Mus; Mutant Strains Mice; Mutation; National Center for Research Resources; Oral health; Pathology; Pattern; Play; Polydactyly; Principal Investigator; Research; Research Infrastructure; Resources; Role; Source; South Carolina; Syndrome; Tooth structure; United States National Institutes of Health; cost; gene function; insight; kinetosome; mouse model; orofaciodigital syndrome I; skeletal

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. Primary cilia are present on most mammalian cells but their function is poorly understood in mammalian dentition. A growing number of disorders including Bardet-Biedl syndrome, Oral facial digital syndrome I, and Ellis-van Creveld syndrome have been attributed to mutations in genes that function in primary cilia or basal bodies. In addition to common pathologies such as development of renal cysts and skeletal defects, several of these disorders also have defects in tooth patterning, development or morphogenesis. Despite this evidence that primary cilia are important for the morphogenesis of the tooth, little research has been devoted to understanding the function of primary cilia in the mammalian dentition. The goal of this project is to examine the maturation of the molars in a murine model that features defective primary cilia, the Ift88orpk mutant mouse. In addition to pathologies including polydactyly, hydrocephalus and renal cysts, Ift88orpk mutant mice develop an ectopic molar. The maturation of the molars in this mouse model has not been investigated. Examination of molar morphogenesis and maturation in this mouse model will provide insight into the role primary cilia play in mammalian tooth development and how defective cilia function in these syndromes leads to changes in tooth structure.

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。子项目的主要支持 而子项目的主要调查员可能是由其他来源提供的， 包括其它NIH来源。 列出的子项目总成本可能 代表子项目使用的中心基础设施的估计数量， 而不是由NCRR赠款提供给子项目或子项目工作人员的直接资金。 初级纤毛存在于大多数哺乳动物细胞上，但它们在哺乳动物牙列中的功能知之甚少。 越来越多的疾病，包括Bardet-Biedl综合征，口面指综合征I和Ellis-van Creveld综合征，已被归因于在初级纤毛或基体中起作用的基因突变。 除了常见的病理，如肾囊肿和骨骼缺陷的发展，这些疾病中的几种也有缺陷的牙齿图案，发展或形态。 尽管有证据表明初级纤毛对牙齿的形态发生很重要，但很少有研究致力于了解初级纤毛在哺乳动物牙列中的功能。 该项目的目标是研究在一个小鼠模型，功能缺陷的初级纤毛，Ift 88 orpk突变小鼠的磨牙的成熟。 除了多指畸形、脑积水和肾囊肿等病理外，Ift 88 orpk突变小鼠还出现异位臼齿。 尚未研究该小鼠模型中磨牙的成熟。 在这种小鼠模型中检查磨牙形态发生和成熟将深入了解初级纤毛在哺乳动物牙齿发育中的作用，以及这些综合征中纤毛功能缺陷如何导致牙齿结构的变化。