一种在瑞连蛋白基因中发生新的自发突变的reeler突变小鼠。

A reeler mutant mouse with a new, spontaneous mutation in the reelin gene.

作者信息

Andersen Tom E, Finsen Bente, Goffinet Andre M, Issinger Olaf-Georg, Boldyreff Brigitte

机构信息

Department of Biochemistry and Molecular Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense, Denmark.

出版信息

Brain Res Mol Brain Res. 2002 Sep 30;105(1-2):153-6. doi: 10.1016/s0169-328x(02)00389-3.

DOI:10.1016/s0169-328x(02)00389-3

PMID:12399118

Abstract

In one of our mouse colonies a reeler-like phenotype appeared spontaneously. The brain histology was identical to the known reeler phenotype. Northern and Western blot analysis and a complementation test showed that the defect is located to the reelin gene. Southern blot and PCR analysis together with information obtained from sequence databases revealed that this defective reelin gene had an approximately 24-kb intragenic deletion comprising exons 13-20.

摘要

在我们的一个小鼠群体中，自发出现了一种类Reeler表型。脑组学与已知的Reeler表型相同。Northern和Western印迹分析以及互补试验表明，缺陷位于Reelin基因。Southern印迹和PCR分析以及从序列数据库获得的信息显示，这个有缺陷的Reelin基因有一个大约24kb的基因内缺失，包含外显子13 - 20。