vision/eye
• congenital ocular inflammation, as determined by marker expression
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• disrupted nerve fiber and horizontal cell axons
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• thin
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• delayed development at E17.5
• anterior segment dysgenesis at postnatal periods
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• at E15.5, the anterior and posterior chamber including the iridocorneal angle is filled with lens fiber cells
• the anterior chamber angle is filled with more lens fibers or mesenchymal cells
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• ciliary body hypoplasia at P21
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• forward-bending iris
• disorganized lens matrix at P21
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• at P21
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• thinness at P21
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• distortion of the parallel arrangement with more dense keratocytes distribution
• disorganized at P21
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• lens vesicle remains attached to the cornea by a persistent lens stalk in some mice
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• progressive reduction in anterior chamber from E17.5 to adult
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• very shallow or absent anterior chamber at P21 and in adult mice
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• very shallow or absent anterior chamber at P21 and in adult mice
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• at E15.5, the anterior and posterior chamber including the iridocorneal angle is filled with lens fiber cells
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• at E15.5 to E17.5 and at P21, mice exhibit loss of capsule structural integrity leading to extrusion of lens fiber cells into the anterior and posterior chambers
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• defective lens fiber cell differentiation
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• at P21
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• disorganized at P21
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• at E15.5, secondary lens fiber cells are reduced in number compared to in wild-type mice
• at P21, the number of secondary fibers in the transition zone is reduced compared to in wild-type mice
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• at E15.5 and P21
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small lens
(
J:213336
)
• at E15.5, at E17.5, P21 and in adult mice
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• at E17.5, P21 and in adult mice
• however, eye size is normal at E15.5
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• retinal dysgenesis and retraction at P21
• early-onset glaucoma
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• at 3 weeks
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• 9 of 28 mice exhibit loss of structural integrity of the inner limiting membrane
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retina fold
(
J:213336
)
• retinal folds and rosette-like structures are found in 88.9% mutants at P17-P21
• only local retinal folds and rosette-like structures are found in 32.1% mutants at E15.5-E17.5
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• in the inner plexiform layer
• in full retinal layers of some retinal regions
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• in 21 of 28 mice, mesenchymal cells aggregate and form the retrolental tissue in the vitreous
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cellular
• at E15.5 in the anterior lens epithelium
• however, proliferation of epithelial cells in the transition zone is not severely affected
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• disrupted in the eyes with reduced cell adhesion
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limbs/digits/tail
kinked tail
(
J:213336
)
• however, further breeding disassociated the kinky tail from the small-eye phenotype
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pigmentation
belly spot
(
J:213336
)
immune system
• congenital ocular inflammation, as determined by marker expression
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nervous system
• at 3 weeks
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• disrupted nerve fiber and horizontal cell axons
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• thin
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integument
belly spot
(
J:213336
)