Functional map of a segment on mouse chromosome 5

描述（由申请人提供）：功能内容的说明 一个模式生物的基因组，如小鼠，涉及识别 基因和进化上保守的非转录序列通过基因组 测序、基因表达分析以及正常和突变体的分析 表型这项拨款申请是在一个激动人心的时刻准备的， 哺乳动物生物学，当这些努力中的每一个都在一个 大规模-全基因组水平。在这个项目中，我们建议启动 这些功能基因组学数据的整合，使用100 Mb染色体 小鼠基因组区域作为模型。我们的目标是（1）识别， 表征和克隆一组新的胚胎致死突变， Rw反转覆盖的30 cM/60 Mb区域（2）进行功能分析 GABAA受体亚基基因簇的表达 (ES)染色体缺失的细胞和携带小鼠的表型分析 这些缺失和（3）组装基因索引并进行比较测序 分析显示参与发育过程的基因（基于 突变体分析和/或可用的表达数据）。最小基因集 是发育生物学的关键问题。在 这个建议我们使用一个定义的染色体区域，代表2%的 小鼠基因组，以及现有的遗传、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.