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Characterization of a 1-bp Deletion in the �E-Crystallin Gene Leading to a Nuclear and Zonular Cataract in the Mouse

By Jana Löster and Jochen Graw


PURPOSE. A previous study had found a mouse mutant to have bilateral nuclear cataract with zonular opacity after paternal irradiation with �-rays. The mutation was then demonstrated to be allelic with the Cat2 group of dominant cataract mutations and was referred to as Cat2 nz in a later study. Because several members of this group have been confirmed as mutations in the gene cluster coding for �-crystallins (Cryg), these genes were now tested as candidates for Cat2 nz. METHODS. All six �-crystallin–encoding genes were amplified by polymerase chain reaction (PCR) from cDNA or genomic DNA and sequenced. An antibody against the changed protein was developed and used for Western blot analysis. The mutant was also characterized morphologically. RESULTS. A 1-bp deletion in exon 2 of the �E-crystallin–encoding gene Cryge was causative of the cataract phenotype. Thi

Year: 2013
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