Department of Biochemistry, University of Lausanne, Epalinges, Switzerland.
Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
Methods Mol Biol. 2021;2248:167-183. doi: 10.1007/978-1-0716-1130-2_12.
Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia, a congenital condition characterized by the absence or abnormal formation of sweat glands, teeth, and several skin appendages. Stimulation of the EDA receptor (EDAR) with agonists in the form of recombinant EDA or anti-EDAR antibodies can compensate for the absence of Eda in a mouse model of Eda deficiency, provided that agonists are administered in a timely manner during fetal development. Here we provide detailed protocols for the administration of EDAR agonists or antagonists, or other proteins, by the intravenous, intraperitoneal, and intra-amniotic routes as well as protocols to collect blood, to visualize sweat gland function, and to prepare skulls in mice.
遗传性外胚层发育不全 A（EDA）缺陷导致 X 连锁少汗性外胚层发育不良，这是一种先天性疾病，其特征是汗腺、牙齿和几种皮肤附属物缺失或异常形成。在 Eda 缺陷的小鼠模型中，以重组 EDA 或抗 EDAR 抗体的形式用激动剂刺激 EDA 受体（EDAR）可以弥补 Eda 的缺失，但前提是激动剂必须在胎儿发育过程中及时给予。在这里，我们提供了通过静脉内、腹膜内和羊膜内途径给予 EDAR 激动剂或拮抗剂或其他蛋白质的详细方案，以及收集血液、可视化汗腺功能和准备小鼠颅骨的方案。
