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一种导致感音神经性耳聋和前庭缺陷的新型小鼠插入突变。

A new mouse insertional mutation that causes sensorineural deafness and vestibular defects.

作者信息

Alagramam K N, Kwon H Y, Cacheiro N L, Stubbs L, Wright C G, Erway L C, Woychik R P

机构信息

Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio 44106, USA.

出版信息

Genetics. 1999 Aug;152(4):1691-9. doi: 10.1093/genetics/152.4.1691.

Abstract

This article describes a new recessive insertional mutation in the transgenic line TgN2742Rpw that causes deafness and circling behavior in mice. Histologic analysis revealed virtually complete loss of the cochlear neuroepithelium (the organ of Corti) in adult mutant mice. In association with the neuroepithelial changes, there is a dramatic reduction of the cochlear nerve supply. Adult mutants also show morphological defects of the vestibular apparatus, including degeneration of the saccular neuroepithelium and occasional malformation of utricular otoconia. Audiometric evaluations demonstrated that the mice displaying the circling phenotype are completely deaf. Molecular analysis of this mutant line revealed that the transgenic insertion occurred without creating a large deletion of the host DNA sequences. The mutant locus was mapped to a region on mouse chromosome 10, where other spontaneous, recessive mutations causing deafness in mice have been mapped.

摘要

本文描述了转基因系TgN2742Rpw中一种新的隐性插入突变,该突变导致小鼠耳聋和转圈行为。组织学分析显示,成年突变小鼠的耳蜗神经上皮(柯蒂氏器)几乎完全丧失。与神经上皮变化相关的是,耳蜗神经供应显著减少。成年突变体还表现出前庭器官的形态缺陷,包括球囊神经上皮变性和偶尔的椭圆囊耳石畸形。听力评估表明,表现出转圈表型的小鼠完全失聪。对该突变系的分子分析表明,转基因插入未导致宿主DNA序列的大片段缺失。突变位点被定位到小鼠10号染色体上的一个区域,在该区域已定位到其他导致小鼠耳聋的自发隐性突变。

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