Article
Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.
Molecular vision - 1 Jan 2013
Puk Oliver, Yan Xiaohe, Sabrautzki Sibylle, Fuchs Helmut, Gailus-Durner Valérie, Hrabě de Angelis Martin, Graw Jochen
Abstract excerpt
PURPOSE: Within a mutagenesis screen, we identified the new mouse mutant Aey80 with small eyes; homozygous mutants were not obtained. The aim of the study was its molecular characterization. METHODS: We analyzed the offspring of paternally N-ethyl-N-nitrosourea (ENU)-treated C3HeB/FeJ mice for dysmorphology parameters, which can be observed with the naked eye. The Aey80 mutant (abnormality of the eye) was further...
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