mortality/aging
• fewer than expected homozygotes (7.5% instead of the expected 25%) are seen, suggesting early postnatal mortality
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vision/eye
• however, retinal development is normal
• the lens degenerates after E14.5 due to apoptosis without the formation of lens secondary fiber cells
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• secondary lens fiber differentiation, in particular elongation, is impaired
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reproductive system
• abnormal constrictions in the lumen of the vas deferens
• the pseudostratified epithelium and the lamina propria layer of the vas deferens is thicker
• the cells that make up the lamina propria layer are rounder and more abundant and there is a reduction in the production of elastic fibers and interstitial cells of Cajal
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• males are subfertile despite sufficient sperm production and ability to fertilize wild-type eggs in vitro
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cellular
• the lens degenerates after E14.5 due to apoptosis without the formation of lens secondary fiber cells
• however, retinal development is normal
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