Genetic background influences the capacity for medial edge epithelium disintegration and phenotype of cleft palate in TGFβ3 knockout mice

• Published in: Journal of oral biosciences 2020-09, Vol.62 (3), p.260-266
• Main Authors: Sugiyama, Akiko, Takigawa, Toshiya
• Format: Article
• Language: English
• Subjects: Cleft palate; Craniofacial abnormality; Genetic background; Knockout mouse; Transforming growth factor β 3
• ISSN: 1349-0079
• DOI: 10.1016/j.job.2020.06.002

Cleft palate is a frequent congenital craniofacial malformation of unknown etiology. Transforming growth factor (TGF) β3 is required for palatal shelf fusion. Although TGFβ3 knockout (KO) mice are widely used mouse models for cleft palate, cleft palate phenotypes differ among these mice. This study aimed to determine the effects of genetic background on the cleft palate phenotype in mice. We produced TGFβ3 KO congenic mouse strains with five different genetic backgrounds. The phenotypes of the congenic strains were determined by visual examination. The capacity for disintegration of the medial edge epithelium (MEE) and basement membrane (BM) of palatal shelves of all five mouse strains was analyzed by using immunofluorescence staining after single palatal shelf suspension culture. The relationship between phenotype and disappearance of the MEE and BM was analyzed. Although the five congenic strains carried the same defective Tgfb3 gene, the fetal palate phenotypes differed among strains. The loss of the MEE cells and BM also differed with the genetic background, and the degree of such loss correlated with the cleft palate phenotype. The cleft palate phenotype in mice is influenced by the genetic background, which governs the capacity for MEE and BM disintegration. •Cleft palate phenotypes in TGFβ3 knockout mice differed between congenic strains.•Genetic background influenced the cleft palate phenotype in TGFβ3 knockout mice.•The phenotype correlated with the capacity for medial edge epithelium disintegration.