Molecular basis of cleft palates in mice

Abstract

Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis.

Keywords: Tbx1; Submucosal cleft palate; Incomplete cleft palate; Palatal shelf; Palatogenesis; Knockout mice

Core tip: Cleft lip and/or palate is one of the most frequent congenital craniofacial anomalies observed. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. We screened knockout mice with cleft palate phenotypes and observed approximately 180 mice with the anomaly. In order to understand the molecular regulatory mechanisms of palatogenesis and to identify genetic errors that lead to cleft palates, we aimed to review studies performed using knockout mice with cleft palates.