Dosage requirement and allelic expression of PAX6 during lens placode formation.

@article{Raamsdonk2000DosageRA,
  title={Dosage requirement and allelic expression of PAX6 during lens placode formation.},
  author={Catherine D Van Raamsdonk and Shirley M. Tilghman},
  journal={Development},
  year={2000},
  volume={127 24},
  pages={5439-48}
}
Pax6 is a member of the mammalian Pax transcription factor family. Many of the Pax genes display semi-dominant loss-of-function heterozygous phenotypes, yet the underlying cause for this dosage requirement is not known. Mice heterozygous for Pax6 mutations exhibit small eyes (Sey) and in embryos the most obvious defect is a small lens. We have studied lens development in Pax6(Sey)(-1Neu)/+ embryos to understand the basis of the haploinsufficiency. The formation of the lens pre-placode appears… CONTINUE READING

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