Abstract：
Birth defects have always been one of the most important diseases in medical research as they affect the quality of the birth population. Orofacial clefts (OFCs) are common birth defects that place a huge burden on families and society. Early screening and prevention of OFCs can promote better natal and prenatal care and help to solve the problem of birth defects. OFCs are the result of genetic and environmental interactions; many genes are involved, but the current research has not clarified the specific pathogenesis. The mouse animal model is commonly used for research into OFCs; common methods of constructing OFC mouse models include transgenic, chemical induction, gene knockout, gene knock-in and conditional gene knockout models. Several main signal pathways are involved in the pathogenesis of OFCs, including the Sonic hedgehog (SHH) and transforming growth factor (TGF)-β pathways. The genes and proteins in each molecular pathway form a complex network to jointly regulate the formation and development of the lip and palate. When one or more genes, proteins or interactions is abnormal, OFCs will form. This paper summarises the mouse models of OFCs formed by different modelling methods, as well as the key pathogenic genes from the SHH and TGF-β pathways, to help to clarify the pathogenesis of OFCs and develop targets for early screening and prevention.
摘要：
出生缺陷一直是医学研究中最重要的疾病之一，因为它们影响着出生人口的质量。面部裂痕（OFC）是常见的出生缺陷，给家庭和社会带来了巨大的负担。早期筛查和预防OFCs可以促进更好的出生和产前保健，并有助于解决出生缺陷问题。OFC是遗传和环境相互作用的结果；许多基因参与其中，但目前的研究尚未阐明具体的发病机制。OFC的研究常用小鼠动物模型,构建OFC小鼠模型的常用方法包括转基因、化学诱导,基因敲除,基因敲入和条件基因敲除模型。OFCs的发病机制涉及几个主要的信号通路,包括Sonichedgehog（SHH）和转化生长因子（TGF）-β途径。各个分子通路中的基因和蛋白质形成一个复杂的网络，共同调控唇腭部的形成和发育。当一个或多个基因，蛋白质或相互作用是不正常的，OFC将形成。本文总结了不同建模方法形成的OFC小鼠模型，以及SHH和TGF-β途径的关键致病基因，有助于阐明OFCs的发病机制，制定早期筛查和预防的靶点。
