SKELETAL AND CNS DEFECTS IN PIEBALD DELETION IN MICE

描述(改编自调查人员摘要)：这是一个应用程序 杰克逊实验室的一位新研究员获得了第一个奖项 寻求对小鼠花斑缺失的遗传分析的支持。 具体地说，他计划将重点放在那些缺失导致脊椎发育的基因上 脊髓畸形和轴向骨骼的同源同型转化。这个 这项工作的长期目标是识别在 哺乳动物胚胎发生和研究存在的关系 基因组组织和发育的遗传控制之间的关系。三 具体的目标是：1)确定一段关系是否存在 15DttMb和36Pub表型之间的关系及维甲酸的作用 酸和HOX基因在花纹形成中的作用；2)开发遗传和 已定义染色体的功能基因组研究的物理资源 15DttMb和36Pub删除的间隔；3)克隆和 鉴定与15DttMb功能区间对应的基因，该基因 与脑积水和呼吸衰竭有关，以及 脊椎的顺应性转化和脊髓畸形。

DESCRIPTION (Adapted from investigator's abstract): This is an application for a FIRST award from a new investigator at the Jackson Laboratory who seeks support for genetic analysis of the piebald deletion in the mouse. Specifically, he plans to focus on genes whose absence results in spinal cord malformation and homeotic transformations of the axial skeleton. The long term objectives of this work are to identify genes important in mammalian embryogenesis and to investigate the relationships that exist between genome organization and the genetic control of development. Three specific aims are outlined: 1) to determine whether a relationship exists between the 15DttMb and 36Pub phenotypes and the roles played by retinoic acid and the Hox genes in pattern formation; 2) to develop genetic and physical resources for functional genomic studies of defined chromosomal intervals within the 15DttMb and 36Pub deletions; 3) to clone and characterize genes corresponding to the 15DttMb functional interval, which is associated with hydrocephalus and respiratory failure, as well as homeotic transformation of vertebrae, and spinal cord malformations.