A NEW ES CELL DELETION RESOURCE AND WILLIAMS SYNDROME

一种新的 ES 细胞缺失资源和威廉姆斯综合征

• 批准号: 6013263
• 负责人: Neal Clifford GOODWIN
• 金额: $ 3.53万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-09-25 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6013263
• 关键词: Williams syndrome; animal genetic material tag; biomedical resource; cell bank /registry; cell line; combinatorial chemistry; disease /disorder model; embryonic stem cell; gene deletion mutation; genetic manipulation; genetic mapping; laboratory mouse; phenotype; polymerase chain reaction; southern blotting; tissue /cell preparation

A bank (DelBank) of mouse embryonic stem (ES) cell lines is being generated by inserting by non-homologous recombination a thymidine kinase/neomycin (tk/neo) reporter cassette throughout the genome of (129 X C57BL/6J) Fl hybrid ES cells. The reporter cassette is specifically designed to allow the selection of deletion complexes in ES cells. The DelBank cell lines, each with a differently positioned reporter cassette, are then available to the research community as a resource for functional deletion mutagenesis studies. This resource will obviate the requirement of researchers to first use cumbersome gene targeting in ES cells, and it will provide researches with the capability to use specific ES cells with insertions at loci of interest to generate overlapping deletion complexes in mice. One such ES cell line will be used to generate deletion complexes in the mouse genomic region syntenic to the human Williams-Beuren disease locus. The deleted mutated mice generated will be used to assign disease phenotypes to specific genomic regions, and this will provide animal disease models for the Williams-Beuren contiguous gene syndrome.

小鼠胚胎茎（ES）细胞系的库（Delbank）是通过非同源重组的胸苷激酶/新霉素/新霉素（TK/NEO）记者盒插入（129 x C57BL/6J）FL混合ES细胞的整个基因组而产生的。 记者盒专门为允许在ES细胞中选择缺失复合物的选择。 然后，研究界可以作为功能缺失诱变研究的资源来使用Delbank细胞系，每个细胞系都有不同位置的记者盒。 该资源将消除研究人员首先使用ES细胞中繁琐的基因靶向的需求，并且它将提供研究能够在感兴趣的基因座插入特定的ES细胞以在小鼠中产生重叠的缺失复合物。 一种这样的ES细胞系将用于在小鼠基因组区域与人威廉姆斯 - 布伦疾病基因座共同产生缺失复合物。 所产生的已删除的突变小鼠将用于将疾病表型分配给特定的基因组区域，这将为威廉姆斯 - 海元连续基因综合征提供动物疾病模型。