Figure 1. p53^{25,26,53,54/+} Embryos Exhibit Lethality and Diverse Craniofacial Defects Characteristic of CHARGE Syndrome.

(a) p53 TAD mutant allele with L25Q, W26S, F53Q, F54S mutations. Cre deletes Lox-Stop-Lox (LSL) cassette, inducing p53^25,26,53,54 expression. (b) Exencephaly (63%, n=35; arrow) and short lower jaw (74%, n=27; arrowhead) in E15.5 p53^{25,26,53,54/+} embryo. (c) Cleft palate (arrow) in E15.5 p53^{25,26,53,54/+} embryo. (n=3). (d) Absent external ear pinna (arrow) of E15.5 p53^{25,26,53,54/+} embryo. (47%, n=17). (e) Posterior semicircular canal (pc) fused to common crus (CC; arrow) in E13.5 p53^{25,26,53,54/+} inner ear. ac-anterior canal, lc-lateral canal. (71%, n=12). (f) Coloboma (arrow) in E13.5 p53^{25,26,53,54/+} embryo. (59%, n=17). (g) Retinal coloboma (Re; arrow) in E15.5 p53^{25,26,53,54/+} embryo.