Henry K R, Chole R A
Audiology. 1987;26(1):44-55.
The LP/J mouse is the only available genetic model for otosclerosis. The otosclerosis-like condition of the LP/J mouse resembles the human condition in several ways, although there are differences in the two species in the most common locus of the dysplastic otic lesions. The mouse model would be more useful if its auditory dysfunction and genetic inheritance could also be compared with the human disease. Matings of the otosclerosis-like LP/J and the normal CBA/J inbred mice were used to generate F1 and backcross generations. The F1 showed neither functional (electrocochleographic) nor anatomical abnormalities, indicating a recessive nature of the mouse genetic disease. This is in contrast to some reports of dominance (with incomplete penetrance) of otosclerosis in humans. No evidence of X-chromosome-linked genetic influence was found in the mouse, in agreement with the human condition. These interpretations were confirmed in tests of the backcross of the F1 to the CBA/J parental genotype (BC). The anatomical and functional abnormalities were present in some of the backcrosses of the F1 to the LP/J parental genotype (BL). A comparison of bone-conducted and air-conducted electrocochleographic responses provided evidence for both conductive and sensorineural losses in the LP/J and BL mice.
LP/J小鼠是唯一可用的耳硬化症遗传模型。LP/J小鼠的耳硬化样病症在几个方面类似于人类病症，尽管在发育异常耳病变的最常见位点上这两个物种存在差异。如果其听觉功能障碍和遗传遗传也能与人类疾病进行比较，那么该小鼠模型将更有用。耳硬化样LP/J小鼠与正常CBA/J近交系小鼠交配产生F1代和回交后代。F1代既没有功能性（电耳蜗图）异常也没有解剖学异常，表明该小鼠遗传疾病具有隐性特征。这与一些关于人类耳硬化症显性（不完全外显）的报道形成对比。在小鼠中未发现X染色体连锁遗传影响的证据，这与人类情况一致。这些解释在F1代与CBA/J亲本基因型（BC）回交的测试中得到了证实。在F1代与LP/J亲本基因型（BL）的一些回交后代中出现了解剖学和功能性异常。骨导和气导电耳蜗图反应的比较为LP/J和BL小鼠的传导性和感音神经性听力损失提供了证据。
