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大鼠“creeping”突变的基因定位及其位置候选基因reelin的评估

Genetic mapping of the rat mutation creeping and evaluation of its positional candidate gene reelin.

作者信息

Yokoi N, Shimizu S, Ishibashi K, Kitada K, Iwama H, Namae M, Sugawara M, Serikawa T, Komeda K

机构信息

Department of Medical Genetics (Novo Nordisk Pharma), Chiba University School of Medicine, Japan.

出版信息

Mamm Genome. 2000 Feb;11(2):111-4. doi: 10.1007/s003350010022.

Abstract

We have previously described a rat autosomal recessive mutation, creeping (cre), causing severe ataxia and disarrangement of neuronal cells in the central nervous system. The mutant strain has recently been successfully inbred, named Komeda Zucker creeping (KZC) rat. In the present study, we have performed a genetic analysis of the creeping mutation, and mapped it to rat Chromosome (Chr) 4. Comparative mapping, together with the similarity of the phenotype, suggested that the creeping mutation is homologous to the mouse reeler mutation. In fact, reelin expression was markedly reduced in the homozygous mutant (cre/cre) animals compared with the normal littermates. Thus, the KZC rat should become a useful biological model with a novel mutation in the reelin gene.

摘要

我们之前描述过一种大鼠常染色体隐性突变,即爬行(cre)突变,该突变会导致严重共济失调以及中枢神经系统神经元细胞排列紊乱。该突变品系最近已成功培育为近交系,命名为小枝·祖克爬行(KZC)大鼠。在本研究中,我们对爬行突变进行了基因分析,并将其定位到大鼠4号染色体(Chr)上。比较定位以及表型相似性表明,爬行突变与小鼠reeler突变同源。事实上,与正常同窝仔相比,纯合突变体(cre/cre)动物中reelin表达明显降低。因此,KZC大鼠应会成为一种在reelin基因中有新突变的有用生物学模型。

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