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From the National Research Center for Environment and Health (Forschungszentrum für Umwelt und Gesundheit), Institute of Mammalian Genetics, Neuherberg, Germany.
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 Crygenz 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 the
C-crystallin encoding gene (Crygc) is causative
for the cataract phenotype; the mutation is therefore designated
CrygcChl3. 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 CrygcChl3 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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