muscle
vision/eye
• eyes show a persistent connection between the optic nerve and projected posterior segment
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• defective posterior lens capsule
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• abnormal lens development, with impaired normal proliferation and differentiation process of embryonic lens cells
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lenticonus
(
J:80609
)
• adults exhibit posterior lenticonus with numerous vacuolations, covered by relatively intact migration of equatorial epithelial cells but defective posterior lens capsule
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• mice show the presence of the retrolenticular membrane indicating that the primary vitreous membrane does not regress and develops to fuse to the posterior capsule of the lens in adulthood
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• size of the palpebral fissure is reduced
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• retinal dysplasia with presence of retinal folds in embryos and adults
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• retinas exhibit marked disorganization of cellular layer patterns of the neural retina
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retina fold
(
J:80609
)
• retinal folds are present in embryos and adults
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• sclera is locally thinner or missing in embryos and adults
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behavior/neurological
• mice exhibit motor defects on the rotarod
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cardiovascular system
• ventricular septum defects in embryos with incomplete septum closure
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