Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus

@article{Favor2008RelationshipOP,
  title={Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus},
  author={J. Favor and C. Gloeckner and A. Neuh{\"a}user-Klaus and W. Pretsch and R. Sandulache and S. Saule and Irmgard Zaus},
  journal={Genetics},
  year={2008},
  volume={179},
  pages={1345 - 1355}
}
In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6132-14Neu 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. Glucagon-promoter activation by the entire mutant Pax6 product of a reporter gene driven by the G1 paired and homeodomain DNA binding target was slightly increased. We… Expand
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References

SHOWING 1-10 OF 77 REFERENCES
Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival.
Forebrain patterning defects in Small eye mutant mice.
Genetic dissection of Pax6 dosage requirements in the developing mouse eye.
Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development
Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities
Multiple functions for Pax6 in mouse eye and nasal development.
...
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3
4
5
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