Mouse Genome Informatics
hm
    Gja8tm1Paul/Gja8tm1Paul
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Nuclear cataracts in Gja8tm1Paul/Gja8tm1Paul mice

vision/eye
• early postnatal eye and lens growth is severely deficient and pathological changes become evident at P7
• EM measurements of fiber diameter in the equatorial regions of wild-type and mutant lenses show no significant differences in fiber size, suggesting fewer lens fibers due to a reduced rate of cell division
• at 2 weeks of age, mutant lenses display an irregular and diffuse nuclear opacity not present in control lenses
• by 6 months of age, mutant lenses show a fine particulate precipitate confined to the nucleus, which is typical of zonular pulverulent cataracts
• in addition, a sharply defined line of unknown nature is found in the inner cortical region of the mutant lens
• lenses dissected from adult male homozygotes are 46% smaller than lenses from control littermates
• at P0, mutant eye mass is identical to that of controls but is decreased 18% by P7
• by P14, the mutant eye mass is only 68% that of control, and remains constant for at least 4 months
• notably, the eye growth rate continues to decrease for 1 week after the lens growth rate has stabilized
• at P0, mutant lens mass is identical to that of controls but is reduced to only 56% that of control by P7, and remains constant thereafter
• at P7, mutant lenses show a large clear zone composed of fiber cells that lack the normal eosinophilic staining in the nuclear region
• however, at E16.5, mutant lenses appear normal in terms of size and integrity relative to control lenses
• dye injection studies revealed no significant differences in lens intercellular communication at developmental stages prior to cataract formation
• eyes dissected from adult male homozygotes are 32% smaller than eyes from control littermates
• however, no significant differences are observed in overall postnatal growth, average mass of adult mutant animals, their kidneys or testes relative to controls

Mouse Models of Human Disease
OMIM IDRef(s)
Cataract 1, Multiple Types; CTRCT1 116200 J:50894