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

Paulette A Zaki, J Martin Collinson, Junko Toraiwa, T Ian Simpson, David Price, Jane C Quinn

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Article number46
Number of pages11
JournalBMC Developmental Biology
Volume6
DOIs
Publication statusPublished - 2006

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