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Analysis of compound heterozygotes reveals that the mouse floxed Pax6 tm1Ued allele produces abnormal eye phenotypes

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)1-14
Number of pages14
JournalTransgenic Research
Early online date30 May 2016
DOIs
Publication statusE-pub ahead of print - 30 May 2016

Abstract

Analysis of abnormal phenotypes produced by different types of mutations has been crucial for our understanding of gene function. Some floxed alleles that retain a neomycin-resistance selection cassette (neo cassette) are not equivalent to wild-type alleles and provide useful experimental resources. Pax6 is an important developmental gene and the aim of this study was to determine whether the floxed Pax6 tm1Ued (Pax6 fl ) allele, which has a retained neo cassette, produced any abnormal eye phenotypes that would imply that it differs from the wild-type allele. Homozygous Pax6 fl/fl and heterozygous Pax6 fl/+ mice had no overt qualitative eye abnormalities but morphometric analysis showed that Pax6 fl/fl corneas tended be thicker and smaller in diameter. To aid identification of weak effects, we produced compound heterozygotes with the Pax6 Sey-Neu (Pax6 −) null allele. Pax6 fl/− compound heterozygotes had more severe eye abnormalities than Pax6 +/− heterozygotes, implying that Pax6 fl differs from the wild-type Pax6 + allele. Immunohistochemistry showed that the Pax6 fl/− corneal epithelium was positive for keratin 19 and negative for keratin 12, indicating that it was abnormally differentiated. This Pax6 fl allele provides a useful addition to the existing Pax6 allelic series and this study demonstrates the utility of using compound heterozygotes with null alleles to unmask cryptic effects of floxed alleles.

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