Which of the following correctly describes the effect of Pax6 loss in vertebrates?
Pax6 serves as master control gene for eye morphogenesis across vertebrates. It sits at top of regulatory hierarchy, directly activating downstream genes including Sox2, Six3, Maf and crystallins in lens, retina and cornea. Null homozygous mutants in mice, rats and humans display anophthalmia or severely reduced eye rudiments because optic vesicle fails to maintain retinal identity and ectoderm cannot achieve lens competence. Even retina, iris and cornea development collapses. Dosage sensitivity explains why haploinsufficiency still permits small eye while complete loss eliminates entire eye field, not just lens alone.
Ref: NCBI Bookshelf, Molecular Biology of the Cell, Chapter 21: Pax6 master regulator - anophthalmia phenotype in mutants.