vision/eye
• aggregations lead to a posterior capsule rupture at the age of about 6 months, followed by protrusion of fiber cells into the posterior chamber
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• the plasma membrane of fiber cells is highly disorganized with multiple invaginations
• large aggregates start around 6 weeks of age in lens fiber cells
• prominent aggregates from 12 weeks onwards
• aggregates are not terminal but transient structures that ultimately become degraded, with an increase in Hsp70 and a 30% increase in proteasome activity
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• lenses are more fragile and display a disrupted fiber cell morphology
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cellular
• cytoplasmic protein inclusions formed that also contained endogenous protein
• transgenic protein is expressed appropriately in all mesenchymal cells
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
cataract 30 | DOID:0110248 |
OMIM:116300 |
J:145782 |