Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus.

In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6(132-14Neu) allele is a Phe272Ile missense mutation within the third helix of the homeodomain. The mutant Pax6 homeodomain shows greatly reduced binding activity to the P3 DNA binding target.

Novel allele of crybb2 in the mouse and its expression in the brain.

Purpose: O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The purpose of this study was to genetically characterize the mutation and to analyze its biological consequences.

Methods: Linkage analysis of the O377 mouse mutant was performed; candidate genes including Crybb2 were sequenced.