Long-term In Vivo Monitoring of Neuromuscular Performance in Mice

描述(申请人提供)：我们研究神经肌肉疾病的遗传基础的能力进入了一个新时代，因为测序的进步使我们能够更快地识别潜在的突变。在患者身上发现的突变可以迅速转移到模型生物体，如小鼠，以进行在患者身上不可能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正在不断增加，可用的分子遗传学工具也在不断增加。相比之下，在患有神经肌肉疾病的小鼠中，相对缺乏复杂的工具来进行体内表型表征。在临床上，肌电(EMG)和神经动作电位(NAP)数据是从患者那里常规收集的数据，用于诊断和研究。这些神经肌肉功能的测量特别有用，因为它们可以重复使用，并用于监测随着时间的推移对治疗的进展或反应。我们建议通过改进现有的植入性技术在小鼠身上开发类似的能力，该技术将允许在自由活动的小鼠中纵向记录EMG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.