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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

From the GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany.

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. This particular mutation is therefore referred to as Cryge^nz. The predicted frameshift after codon 29 led to a changed amino acid sequence of 96 amino acids. The altered 13-kDa protein was expressed in the eye lens as demonstrated by Western blot analysis. Cataracts became visible at day 18.5 of embryonic development and reached the final phenotype at 2 weeks after birth.

CONCLUSIONS. The Cryge^nz is the sixth mutation in the mouse that has been reported so far to affect the Cryg gene cluster, which demonstrates its importance for lens transparency.

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