SOX2 hypomorphism disrupts development of the prechordal floor and optic cup

@article{Langer2012SOX2HD,
  title={SOX2 hypomorphism disrupts development of the prechordal floor and optic cup},
  author={Lee F Langer and Olena Taranova and Kathleen K. Sulik and Larysa Halyna Pevny},
  journal={Mechanisms of Development},
  year={2012},
  volume={129},
  pages={1-12}
}
Haploinsufficiency for the HMG-box transcription factor SOX2 results in abnormalities of the human ventral forebrain and its derivative structures. These defects include anophthalmia (absence of eye), microphthalmia (small eye) and hypothalamic hamartoma (HH), an overgrowth of the ventral hypothalamus. To determine how Sox2 deficiency affects the morphogenesis of the ventral diencephalon and eye, we generated a Sox2 allelic series (Sox2(IR), Sox2(LP), and Sox2(EGFP)), allowing for the… CONTINUE READING