Table 2

Summary of phenotypes associated with specific genotypes in 12.5–17.5 dpc embryos

PhenotypeGenotype
§Hesx1I26T/I26T§Hesx1R160C/R160CHesx1I26T/–Hesx1R160C/–
Severe forebrain defects*1**29††510
Anophthalmia7894
Microphthalmia25651
No defects9000
Total42431915
  • *Small or absent telencephalic vesicles and anophthalmia (Fig. 2B,I,J,L,M).

  • Normal telencephalic vesicles, but unilateral or bilateral anophthalmia (Fig. 2C,G).

  • Embryos were indistinguishable from wild-type littermates (Fig. 2A,E).

  • §12.5–17.5 dpc embryos.

  • 12.5–14.5 dpc.

  • **17.5 dpc embryo.

  • ††Twelve embryos showed defects in the formation of the frontonasal mass (Fig. 2I).