Purchase this article with an account.
Norman Klopp, Jana Löster, Jochen Graw; Characterization of a 1-bp Deletion in the γE-Crystallin Gene Leading to a Nuclear and Zonular Cataract in the Mouse. Invest. Ophthalmol. Vis. Sci. 2001;42(1):183-187.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
purpose. A previous study had found a mouse mutant to have bilateral nuclear
cataract with zonular opacity after paternal irradiation withγ
-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 γ-crystallins
(Cryg), these genes were now tested as candidates for Cat2 nz .
methods. All six γ-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 γE-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
This PDF is available to Subscribers Only