Breuss Martin W, Hansen Andi H, Landler Lukas, Keays David A
IMP, Research Institute of Molecular Pathology, Vienna 1030, Austria.
IMP, Research Institute of Molecular Pathology, Vienna 1030, Austria.
Behav Brain Res. 2017 Apr 14;323:47-55. doi: 10.1016/j.bbr.2017.01.029. Epub 2017 Jan 25.
The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation. Homozygous knockin animals exhibit a severe reduction in brain size and in body weight. These animals do not show any significant impairment in general activity, anxiety, or in the acoustic startle response, however, present with notable defects in motor coordination. When assessed on the static rod apparatus mice took longer to orient and often lost their balance completely. Interestingly, mutant animals also showed defects in prepulse inhibition, a phenotype associated with sensorimotor gating and considered an endophenotype for schizophrenia. This study provides insight into the behavioral consequences of tubulin gene mutations.
神经元的生成、迁移和分化需要微管细胞骨架的功能完整性。已知微管蛋白基因家族的突变会导致各种神经疾病,包括无脑回畸形、眼球运动障碍、多小脑回畸形和肌萎缩侧索硬化症。我们之前曾报道,TUBB5基因突变会导致小头畸形,并伴有严重的智力障碍和运动发育迟缓。在此,我们展示了一种Tubb5小鼠模型的特征,该模型允许条件性表达致病性E401K突变。纯合敲入动物的脑尺寸和体重严重减小。这些动物在一般活动、焦虑或听觉惊吓反应方面没有表现出任何显著损伤,然而,在运动协调方面存在明显缺陷。在静态杆装置上进行评估时,小鼠定向所需时间更长,并且经常完全失去平衡。有趣的是,突变动物在预脉冲抑制方面也表现出缺陷,这是一种与感觉运动门控相关的表型,被认为是精神分裂症的一种内表型。这项研究为微管蛋白基因突变的行为后果提供了见解。