Long-term In Vivo Monitoring of Neuromuscular Performance in Mice

描述（由申请人提供）：随着测序技术的进步，我们研究神经肌肉疾病遗传基础的能力进入了一个新的时代，可以更快速地识别潜在的突变。在患者身上发现的突变可以迅速转移到模型生物（如小鼠）上，以进行在患者身上无法进行的详细机制研究。可用的神经肌肉疾病小鼠模型的数量在不断增加，可用的分子遗传学工具也在不断增加。相比之下，神经肌肉疾病小鼠体内表型表征的复杂工具相对缺乏。在临床上，常规收集患者的肌电图（EMG）和神经动作电位（NAP）数据用于诊断和研究。这些神经肌肉表现的测量特别有用，因为它们可以重复，并用于监测进展或对治疗的反应。我们建议通过改进现有的植入技术在小鼠中开发类似的功能，使其能够在不受束缚、自由移动的小鼠中纵向记录肌电图和NAP。

DESCRIPTION (provided by applicant): Our ability to investigate the genetic basis of neuromuscular disease has entered a new era as advances in sequencing allow more rapid identification of underlying mutations. Mutations identified in patients can be moved quickly to model organisms, such as mice, for the detailed mechanistic studies not possible in patients. The number of available mouse models of neuromuscular disease is increasing constantly, as is the repertoire of available molecular genetics tools. By comparison, there is a relative lack of sophisticated tools for in vivo phenotypic characterization in mice with neuromuscular disease. In the clinic, electromyography (EMG) and nerve action potentials (NAP) data are routinely collected from patients for diagnosis and research. These measures of neuromuscular performance are particularly useful because they can be repeated and used to monitor progression or response to treatment over time. We propose to develop similar capabilities in mice by refining existing implantable technology that will allow longitudinal recording of EMG and NAP in untethered, freely moving mice.