COCHLEAR AND RETINAL DEGENERATION IN THE TUBBY MOUSE
COCHLEAR AND RETINAL DEGENERATION IN THE TUBBY MOUSE
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DOI：
10.1097/00001756-199504190-00005
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发表时间：
1995-04-19
期刊：
影响因子：
1.7
通讯作者：
SILVERMAN, MS
中科院分区：
文献类型：
--
作者：
OHLEMILLER, KK;HUGHES, RM;SILVERMAN, MS
一些常染色体隐性遗传综合征的特征是感音神经性听力损失和视网膜变性。小鼠突变体tubby还结合了听力损失和进行性视网膜变性，因此可能构成一种有用的人类感觉神经性耳聋/视网膜营养不良综合征模型。然而，还没有直接证明这种小鼠的听力损失涉及耳蜗。我们用光学显微镜检查了成年tubby小鼠的耳蜗。鼓形耳蜗显示出明显的Corti器变性和基底传入神经元的丢失，而顶端相对保留。我们的研究结果支持了tubby小鼠作为人类感觉神经性耳聋/视网膜营养不良综合征的模型。可能的人类对应物包括Usher综合征、Alstrom综合征和Bardet-Biedl综合征。
A number of autosomal recessive syndromes feature both sensorineural hearing loss and retinal degeneration. The mouse mutant tubby also combines hearing loss with progressive retinal degeneration, and thus may constitute a useful model of one form of human sensorineural deafness/retinal dystrophic syndrome. It has not been directly demonstrated that the hearing loss in this mouse involves the cochlea, however. We have examined the cochleas of adult tubby mice using light microscopy. The tubby cochlea shows pronounced degeneration of the organ of Corti and loss of afferent neurons in the base, with relative sparing of the apex. Our findings support the tubby mouse as a model of human sensorineural deafness/retinal dystrophic syndrome. Possible human counterparts include Usher's, Alstrom's, and Bardet-Biedl syndromes.