CALCIUM HANDLING IN THE SPLOTCH (SP2H) MOUSE MUTANT

SPLOTCH (SP2H) 小鼠突变体中的钙处理

• 批准号: 6389891
• 负责人: Simon James Conway
• 金额: $ 10.22万
• 依托单位: AUGUSTA UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-05-01 至 2003-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6389891
• 关键词: antisense nucleic acid; calcium channel; calcium transporting ATPase; congenital heart disorder; developmental genetics; embryo /fetus tissue /cell culture; gene expression; ion transport; laboratory mouse; lethal genes; mammalian embryology; mutant; myocardium; neural crest; neural plate /tube; neuromuscular transmission; transfection

DESCRIPTION (adapted from the applicant's abstract): Molecular characterization of conotruncal heart defects in the model mutant mouse splotch (Sp2H) are proposed. This mutant is due to a defect in the Pax3 gene, a known DNA-binding homeodomain. Sp2H mice exhibit persistent truncus arteriosus (PTA), an anomaly that is not predicted to cause intrauterine death. Yet 100% of Sp2H mutant mice with PTA die at approximately day 14 pc. Preliminary data suggest that in addition to structural anomalies, Sp2H mice have a defect in excitation-contraction coupling. Further, analyses of calcium channels in homozygous mutant mice demonstrate an increase in the alpha1C subunit, relative to other subunits. The applicant hypothesizes that Sp2H mouse mutants with PTA have an abnormality in the genes encoding proteins that are important for transport of calcium into cells.

描述（改编自申请人的摘要）：分子 模型突变小鼠中的共鸣心脏缺陷的表征 提出了斑点（SP2H）。 该突变体是由于PAX3中的缺陷 Gene，已知的DNA结合同源域。 SP2H小鼠表现出持续的曲线 Arteriosus（PTA），一种不可预测会引起宫内的异常 死亡。 然而，在大约14天，PTA死亡的SP2H突变小鼠中有100％ 个人电脑。 初步数据表明，除结构异常外，SP2H 小鼠在激发反应耦合方面存在缺陷。 此外，分析 纯合突变小鼠中的钙通道表明 相对于其他亚基，alpha1c亚基。 申请人假设 具有PTA的SP2H小鼠突变体在编码基因中异常 对于将钙转运到细胞中很重要的蛋白质。