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Figure 1


Fig. 1. A missense mutation of Gja8 ({alpha}8-connexin or Cx50) leads to whole cataracts and microphthalmia in the L1 mutant mice. (A) A slit-lamp photo shows the severe cataract of a heterozygous mutant (L1/+) mouse at the age of 1 month. (B) The eyeballs of heterozygous mutant (L1/+) mice are about 30% of the size of wild-type (+/+) controls at the age of 3 weeks. (C) Genome-wide linkage analysis shows that the L1 mutation is mapped to chromosome 3 near marker D3Mit98 with a Lod score of 6.8, which is in the vicinity of Gja8 gene. (D) DNA sequencing of homozygous L1 mouse genomic DNA shows a missense mutation in the {alpha}8 connexin gene. A change of T to C at position 148 causes a substitution of the serine residue at codon 50 by a proline residue (S50P).





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