In:
Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 98, No. 17 ( 2001-08-14), p. 9688-9693
Abstract:
We describe lens defects in heterozygous small eye mice, and
autonomous deficiencies of Pax6 +/− cells in
the developing lens of Pax6 +/+ ↔ Pax6 +/− chimeras. Two separate defects of
the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6 +/− cells are less
readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in
the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards,
whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these
aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human
aniridia ( PAX6 +/− ) phenotype.
Type of Medium:
Online Resource
ISSN:
0027-8424
,
1091-6490
DOI:
10.1073/pnas.161144098
Language:
English
Publisher:
Proceedings of the National Academy of Sciences
Publication Date:
2001
detail.hit.zdb_id:
209104-5
detail.hit.zdb_id:
1461794-8
SSG:
11
SSG:
12
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