Functional map of a segment on mouse chromosome 5

说明书(申请人提供)：功能内容说明 一种模式生物的基因组，如老鼠，涉及到鉴定 基因和进化上保守的非转录序列通过基因组 正常和突变的测序、基因表达分析和分析 表型。这份赠款申请是在一个激动人心的时刻准备的 哺乳动物生物学，当每一项努力都在一个 大规模--全基因组水平。在这个项目中，我们建议启动 使用100Mb染色体整合这些功能基因组数据 以小鼠基因组区域为模型。我们的目标是(1)识别， 鉴定和克隆一组新的胚胎致死突变 RW倒置覆盖的30 cm/60Mb区域(2)进行功能分析 胚胎干细胞产生对GABAA受体亚单位基因簇的影响 (ES)染色体缺失小鼠的细胞及表型分析 这些缺失和(3)组装一个基因索引并执行比较序列 分析显示参与发育过程的基因(基于 突变分析和/或可用的表达数据)。最小的一组基因 胚胎存活所必需的是发育生物学中的一个关键问题。在……里面 在这个建议中，我们使用一个定义的染色体区域，代表2% 小鼠基因组，以及可用的遗传、基因组和生物信息学资源 对这些基因及其突变体进行系统的搜索和分类 表型。

DESCRIPTION (provided by applicant): The elucidation of the functional content of the genome of a model organism, such as the mouse, involves identification of genes and evolutionarily conserved non-transcribed sequences through genome sequencing, analysis of gene expression and analysis of normal and mutant phenotypes. This grant application is being prepared at an exciting time for mammalian biology, when each one of these efforts is being undertaken on a large scale - whole genome level. In this project we propose to initiate the integration of these functional genomics data, using a 100 Mb chromosomal region of the mouse genome as a model. Our aims are to (1) identify, characterize and clone a set of novel embryo-lethal mutations within the 30cM/60 Mb region covered by the Rw inversion (2) perform functional analysis of the cluster of GABAA receptor subunit genes by generation of Embryonic Stem (ES) cells with chromosomal deletions and phenotypic analysis of mice carrying these deletions and (3) assemble a gene index and perform comparative sequence analysis of genes shown to be involved in developmental processes (based on mutant analysis and/or available expression data). The minimal set of genes necessary for embryonic survival is a key question in developmental biology. In this proposal we use a defined chromosomal region, representing 2 percent of the mouse genome, and available genetic, genomic and bioinformatics resources to systematically search for and catalog these genes and their mutant phenotypes.