Papaioannou Virginia E, Behringer Richard R
Department of Genetics and Development, Columbia University Medical Center, New York, New York 10032, USA
Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Cold Spring Harb Protoc. 2023 Nov 6. doi: 10.1101/pdb.over107975.
If homozygous mutants are found dead shortly after birth, further analysis of the phenotype will depend on knowing whether death occurred before or after parturition, which marks a major shift in physiological conditions of neonates. This overview provides methods for determining the time of death and discusses possible causes of lethality during this period, including catastrophic morphological abnormalities or developmental delay of some or all organs. Attention is given to specific defects that could result in perinatal death, such as cranial nerve defects, cleft palate, diaphragm defects, and other problems that might not have been relevant during intrauterine development but become critical during the transition to extrauterine existence.
如果纯合突变体在出生后不久就死亡,那么对其表型的进一步分析将取决于是否知道死亡发生在分娩前还是分娩后,分娩标志着新生儿生理状况的重大转变。本综述提供了确定死亡时间的方法,并讨论了这一时期致死的可能原因,包括一些或所有器官的灾难性形态异常或发育迟缓。文中关注了可能导致围产期死亡的特定缺陷,如颅神经缺陷、腭裂、膈肌缺陷以及其他在子宫内发育期间可能无关但在向宫外生存过渡期间变得至关重要的问题。