A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami.
A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami.
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质膜 Ca(2 )-ATPase 基因的点突变会导致 Wriggle 小鼠 Sagami 失聪。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
Ken Kitamura
中科院分区：
文献类型：
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作者：
Katsumasa Takahashi;Ken Kitamura
自发突变体，Wriggle Mouse Sagami（wri），被认为是人类遗传性听力损失的模型。本文报道了wri小鼠质膜Ca（2+）-ATP酶2（PMCA 2）基因的突变。在wri中检测到G到A的转换，在保守的跨膜结构域内将Glu改变为Lys。PMCA 2的突变以前曾在pmwaddler（dfw）突变体中报道过;然而，wri和dfw突变的位点不同。免疫组织化学分析表明，PMCA 2标记在耳蜗静纤毛是缺席的wri突变体，这表明PMCA 2是至关重要的参与听觉系统的生理。
The spontaneous mutant, Wriggle Mouse Sagami (wri), is thought to be a model of hereditary hearing losses in humans. Here we report that the plasma membrane Ca(2+)-ATPase type 2 (PMCA2) gene is mutated in the wri mouse. A G-to-A transition was detected in wri, changing Glu-to-Lys within a conserved transmembrane domain. Mutation of PMCA2 was previously reported in deafwaddler (dfw) mutants; however, the sites of the wri and dfw mutations differ. Immunohistochemical analysis demonstrated that PMCA2 labeling in stereocilia of the cochlea was absent in the wri mutant, suggesting that PMCA2 is crucially involved in the physiology of the auditory system.
影响因子：
56.9
作者：
Wang, AH;Liang, Y;Friedman, TB
通讯作者：
Friedman, TB
影响因子：
4.4
作者：
NobenTrauth, K;Zheng, QY;Nishina, PM
通讯作者：
Nishina, PM