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JM Collinson, RE Hill, JD West; The Limbal Stem Cell Deficiency in Mice that are Heterozygous Null for Pax6 . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1629.
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Purpose: To investigate possible autonomous deficiencies of corneal epithelial cells in small eye mice (heterozygous null for Pax6). Methods: Aggregation chimeras were made between wildtype 8-cell embryos and small eye embryos that carried a constitutively expressed LacZ transgene. The chimeric mice were grown to adulthood and the pattern of chimerism (revealed by X-Gal staining of the limbal and corneal epithelium) was compared to control chimeras in which both the LacZ-positive and LacZ-negative cells were wildtype with respect to Pax6. Results: In chimeric mice that were a mixture of LacZ+ and LacZ- cells a pattern of blue radial stripes was seen in the adult corneal epithelium that reflects clonal patterns of cell proliferation and migration during corneal maintenance. The blue stripes that were produced by Pax6+/- cells in chimeras were qualitatively identical to those produced by wild-type cells in control chimeras. Cells that are heterozygous for Pax6 can populate the corneal epithelium and be maintained normally into adulthood in chimeric eyes providing the lens is wildtype. Conclusion: We suggest that deficiencies in the corneal epithelium of small eye mice may be, at least in part, non-autonomous, and are exacerbated by the disruption of anterior segment development that results from having a mutant lens
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