Otoconial agenesis in tilted mutant mice
Otoconial agenesis in tilted mutant mice
复制标题
DOI：
10.1016/s0378-5955(98)00080-x
复制
发表时间：
1998-08-01
期刊：
影响因子：
2.8
通讯作者：
Thalmann, R
中科院分区：
文献类型：
--
作者：
Ornitz, DM;Bohne, BA;Thalmann, R
平衡感是系统发育上最古老的感觉系统之一。前庭器官由感觉毛细胞和覆盖的细胞外膜组成，在脊椎动物的进化过程中一直得到保留。为了更好地了解前庭发育的调节机制和前庭病理生理学机制，我们分析了具有重力感受器功能障碍的小鼠突变体倾斜（tlt）。倾斜的小鼠是自发出现的，之前并未对其发育或生理缺陷进行分析。在这里，我们证明倾斜鼠标，就像头部倾斜（het）鼠标一样，特别缺乏耳石，因此无法感知相对于重力的空间方向。与影响前庭系统的其他小鼠突变（例如苍白、摩卡和倾斜头部）不同，倾斜小鼠的缺陷具有高度渗透性，导致几乎完全没有耳石，没有表现出感觉上皮的退化，并且在其他器官系统中没有明显的异常表型。我们进一步证明，在倾斜突变小鼠中，黄斑感觉上皮中的蛋白质表达在质量上没有改变。 (C) 1998 Elsevier Science B.V. 保留所有权利。
The sense of balance is one of the phylogenetically oldest sensory systems. The vestibular organs, consisting of sensory hair cells and an overlying extracellular membrane, have been conserved throughout vertebrate evolution. To better understand mechanisms regulating vestibular development and mechanisms of vestibular pathophysiology, we have analyzed the mouse mutant, tilted (tlt), which has dysfunction of the gravity receptors. The tilted mouse arose spontaneously and has not been previously analyzed for a developmental or physiological deficit. Here we demonstrate that the tilted mouse, like the head tilt (het) mouse, specifically lacks otoconia and consequently does not sense spatial orientation relative to the force of gravity. Unlike other mouse mutations affecting the vestibular system (such as pallid, mocha and tilted head), the defect in the tilted mouse is highly penetrant, results in the nearly complete absence of otoconia, exhibits no degeneration of the sensory epithelium and has no apparent abnormal phenotype in other organ systems. We further demonstrate that protein expression in the macular sensory epithelium is qualitatively unaltered in tilted mutant mice. (C) 1998 Elsevier Science B.V. All rights reserved.