Locomotor and oculomotor impairment associated with cerebellar dysgenesis in Zic3-deficient (Bent tail) mutant mice
Locomotor and oculomotor impairment associated with cerebellar dysgenesis in Zic3-deficient (Bent tail) mutant mice
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DOI：
10.1111/j.1460-9568.2004.03666.x
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发表时间：
2004-10-01
影响因子：
3.4
通讯作者：
Mikoshiba, K
中科院分区：
文献类型：
--
作者：
Aruga, J;Ogura, H;Mikoshiba, K
我们研究了弯尾突变小鼠的成年神经表型。弯曲尾突变小鼠最近被证明缺乏X染色体的亚显微部分，该部分含有Zic 3基因，该基因编码控制脊椎动物神经发育的锌指蛋白。虽然近四分之一的半合子弯尾（Bn/Y，Zic 3缺陷）小鼠在中脑和后脑区域出现神经管缺陷，但其他Bn/Y小鼠在C57 BL/6遗传背景下表现出明显的正常行为。一组行为和眼球运动测试显示，这些小鼠的自发运动活动受损，肌张力降低，前庭眼和视动性眼球运动受损。形态学检查显示，突变体的大脑小脑前叶和旁小叶-小叶复合体的细胞数量显着减少。我们的研究结果表明，小脑发育不全的特点是分区发育不全影响小鼠的运动活动，肌张力和眼球运动控制。这些发现可能对以小脑发育不全为特征的疾病（如Joubert综合征）具有一定的临床意义。
We examined the adult neural phenotypes of the Bent tail mutant mouse. The Bent tail mutant mouse was recently shown to lack a submicroscopic part of the X chromosome containing the Zic3 gene, which encodes a zinc-finger protein controlling vertebrate neural development. While nearly one-fourth of hemizygous Bent tail (Bn/Y, Zic3-deficient) mice developed neural tube defects in their midbrain and hindbrain region, the other Bn/Y mice showed apparently normal behaviour in a C57BL/6 genetic background. A battery of behavioural and eye movement tests revealed impaired spontaneous locomotor activity, reduction of muscle tone and impairments of vestibuloocular and optokinetic eye movements in these mice. Morphological examination of the mutant brain showed a significant reduction in the cell numbers in the cerebellar anterior lobe and paraflocculus-flocculus complex. Our results indicate that the cerebellar dysgenesis characterized by subregional hypoplasia affects the locomotor activity, muscle tone and eye movement control of the mice. These findings may have some clinical implications in relation to disorders characterized by cerebellar dysgenesis, such as Joubert syndrome.