Table 3.
Six categories of defects that result in cleft palate in mutant mice
Defects | Knockout mice | |
(1) | Failure of the palatal shelf formation (small palatal shelves) | Acvr2a[34,50], 1Fgfr2[13], 1Lhx8[11], Pitx2[126], Itga5[65], Fst[46] |
(2) | Abnormal fusion of palatal shelves and tongue or the mandible | Jag2[70], 1Irf6[109,110], 1Tbx1[4], Fgf10[41] |
(3) | Failure or delayed palatal shelf elevation | Pax9[6], 1Pitx1[7], 1Osr2[9], 1Gli2[8], 1Tgfb2[55], 1Pdgfc[51], Dhrs3[172] |
(4) | Failure of the palatal shelf development after the elevation | 1Msx1[10], 1Lhx8[11], 1Tgfbr2 (Wnt1-Cre-mediated ablation)[12] |
(5) | Persistence of medial edge epithelial cells | Apaf1[158], 1Tgfb3[18], Egfr[17], Ctnnb1 (K14-Cre-mediated ablation)[166] |
(6) | Secondary defect | 1Hoxa2[19,20], 1Satb2[135], Acvr1/Alk2 (Wnt1-Cre-mediated ablation)[33] |
Genes involved in human cleft lip and/or palate.