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Background  Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The  Gli3  gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of  Gli3  are lethal. Humans heterozygous for mutations in this gene suffer Greig cephalopolysyndactyly or Pallister-Hall syndromes, in which limb defects are prominent, and mice heterozygous for similar mutations have extra digits. Here we examined whether eye development, which is abnormal in mice lacking functional Gli3, is defective in  Gli3  +/-  mice.    Results  We showed that  Gli3  is expressed in the developing eye but that  Gli3  +/-  mice have only very subtle eye defects. We then generated mice compound heterozygous for mutations in both  Gli3  and  Pax6 , which encodes another developmentally important transcription factor known to be crucial for eye development.  Pax6  +/- ;  Gli3  +/-  eyes were compared to the eyes of wild-type,  Pax6  +/-  or  Gli3  +/-  siblings. They exhibited a range of abnormalities of the retina, iris, lens and cornea that was more extensive than in single  Gli3  +/-  or  Pax6  +/-  mutants or than would be predicted by addition of their phenotypes.    Conclusion  These findings indicate that heterozygous mutations of  Gli3  can impact on eye development. The importance of a normal  Gli3  gene dosage becomes greater in the absence of a normal  Pax6  gene dosage, suggesting that the two genes co-operate during eye morphogenesis.

Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6