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Jochen Graw, Angelika Neuhäuser-Klaus, Jana Löster, Jack Favor; A 6-bp Deletion in the Crygc Gene Leading to a Nuclear and Radial Cataract in the Mouse. Invest. Ophthalmol. Vis. Sci. 2002;43(1):236-240.
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purpose. A mouse mutant expressing a bilateral nuclear and radial cataract was
found after paternal treatment with chlorambucil. The purpose of this
study was to establish the linkage of the mutation to a particular
chromosome to allow molecular characterization. Moreover, the mutants
were examined morphologically.
methods. Isolated lenses were photographed and histologic sections of the eye
were analyzed according to standard procedures. The mutation was
localized to chromosome 1 by allelism testing with the Cryge nz mutation. Candidate genes were
amplified by PCR from cDNA or genomic DNA and sequenced.
results. A novel mouse cataract was characterized by a nuclear and radial
opacification of the lens. The lenses of the mutants are smaller than
those of the wild type. The histologic analysis demonstrated
degeneration of lens fibers in the lens core. Abnormal remnants of cell
nuclei are present throughout the entire lens. Genetic analysis
revealed allelism to the Cat2 group of dominant
cataracts on mouse chromosome 1; therefore, the cluster of the Cryg genes and the closely linked Cryba2 gene were tested as candidates. A 6-bp deletion in exon 3 of theγ
C-crystallin encoding gene (Crygc) is causative
for the cataract phenotype; the mutation is therefore designated Crygc Chl3 . The deletion of the bases
420 to 425 leads to a loss of two amino acids, Gly and Arg, in the
fourth Greek-key motif.
conclusions. The Crygc Chl3 is the first mutation in
the mouse affecting the Crygc gene. Dominant mutations
for five of the six Cryg genes on mouse chromosome 1
have now been characterized, demonstrating the importance of this gene
cluster for lens transparency.
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