Fig. 1. Variation of external craniofacial morphology of Otx2 heterozygous mutant embryos at 18.5 dpc. (A) Wild-type mouse backcrossed Otx2 knockout chimeras with wild-type B6 females. Otx2 heterozygous mutant mice (N2) backcrossed Otx2 mutant chimeras with wild type CBA females (B) and with wild type B6 females (C-I). No noticeable malformations are evident in the mutant mouse on the CBA strain genetic background (B). The severity of the phenotype varies from normal to acephaly (C-I). No apparent external abnormalities are observed in the mutant mouse on the B6 strain genetic background (C). The mutant mouse displays reduction of the lower jaw (D). The mutant mouse lacks an entire lower jaw (E). The mutant mouse displays excencephaly (F). The distal region of the face is shortened in the mutant mouse (short nose) (G). The face is cleft in the mutant mouse (cleft face) (H). The entire head is lacking (acephaly) in the mutant mouse (I).

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