Analysis Tools
mortality/aging
| N |
• surprisingly, homozygotes are born at the expected Mendelian ratio and survive to adulthood without any gross developmental defects
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vision/eye
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• at 12 months of age, the iris appears flat, unlike in wild-type controls where the iris is convex
• however, the iridocorneal angles are well formed and both the trabecular meshwork and Schlemm's canal appear structurally normal
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• the fibrous structure of ciliary zonules is disorganized at P5 and largely absent at later stages
• at 10 weeks of age, ciliary zonules appear severely fragmented; thick bundled structures of microfibrils are barely detected on the ciliary epithelial cells, unlike in wild-type controls
• in organ culture of P5 eye explants, supplementation of recombinant LTBP2 restores the production of bundled unfragmented microfibrils in ciliary zonules
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• homozygotes develop lens dislocation into the posterior chamber of the eyes
• however, no glaucoma-related phenotypes involving an increase in IOP, neuronal damage or visual deficits are observed
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respiratory system
| N |
• TEM revealed normal elastic fiber formation in extracellular matrices of the lungs at P5, at 10 weeks and at 1 year of age
• no signs of emphysema are observed in lung tissues
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cardiovascular system
| N |
• TEM revealed normal elastic lamellae in aortic media at P5, at 10 weeks and at 1 year of age
• aortic stiffness is unaffected, as determined by measuring aortic diameter under continuous increases in intraluminal pressure
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