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Phenotypes Associated with This Genotype
involves: C57BL/6 * SJL
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phenotype observed in females
phenotype observed in males
N normal phenotype
• in histologic sections of eyes from E15 hemizygous transgenic embryos, the lens epithelium appears thickened
• histologic examination of the lenses of hemizygous transgenic mice at embryonic days E15 and E19 and at postnatal day P18 reveals gross disorganization of the secondary fibers
• hemizygous transgenic mice have dense, bilateral nuclear cataracts extending into the cortex, with some individual variation such as cataractous suture or blistered appearance of the lens
• histologic sections of eyes from E15 heterozygous embryos show disorganization of the lens bow region; sections of E19 transgenic eyes show slower progression of the abnormality in heterozygous than in homozygous animals
• histologic examination of the eyes reveals that the lenses of hemizygous transgenic mice are clearly smaller than those of wildtype mice, intermediate in size between those of wildtype animals and of mice homozygous for the transgene; this difference is apparent by embryonic day E15 and remains obvious
• grossly inobvious but significant microphthalmia is seen upon dissection and weighing of the eyes of 20 day old mice; the eyes of hemizygous transgenic mice weigh on average 38% less than those of wildtype littermates

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cataract 19 multiple types DOID:0110263 OMIM:615277

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last database update
MGI 6.12
The Jackson Laboratory