Analysis Tools
cardiovascular system
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• adult homozygotes display abnormal retinal vessels that appear to be tortuous; arteries do not to extend straight toward the periphery
• artery-vein crossover events and acellular capillaries or ghost vessels are observed
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• adult homozygotes exhibit basement membrane deposition and vascular patterning defects in the retina
• at P5, a significant decrease in the number of avascular regions and in the number of vascular branchpoints is observed
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• at P5 and P10, homozygotes show a significant reduction in pericyte coverage in all retinal regions examined (central, peripheral vein, and peripheral artery) relative to wild-type controls
• a significant decrease in pericyte recruitment is also noted in mutant hindbrains at E12.5, and in cerebral cortex capillaries at P5
• however, mesangial cell recruitment (the pericyte equivalent in kidney) at E17.5 and pericyte recruitment in the embryonic heart and placenta at E18.5 are normal
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• Background Sensitivity: the severity of ocular hemorrhage is reduced on a sighted C3H background (i.e. upon crossing onto a congenic C3H strain lacking the Pde6brd1 mutation)
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• following i.p. injection of fluorescently-labeled dextran, P10 mutant retinae exhibit vascular leakage into the vitreous, unlike wild-type controls
• however, tight junction formation between endothelial cells is normal
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vision/eye
| N |
• homozygotes are viable and display normal responses during optokinetic response drum testing
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• adult homozygotes display abnormal retinal vessels that appear to be tortuous; arteries do not to extend straight toward the periphery
• artery-vein crossover events and acellular capillaries or ghost vessels are observed
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• adult homozygotes exhibit basement membrane deposition and vascular patterning defects in the retina
• at P5, a significant decrease in the number of avascular regions and in the number of vascular branchpoints is observed
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• Background Sensitivity: the severity of ocular hemorrhage is reduced on a sighted C3H background (i.e. upon crossing onto a congenic C3H strain lacking the Pde6brd1 mutation)
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• by P28, homozygotes display increased RGC apoptosis, as determined by positive cleaved caspase 3 staining
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• by P28, homozygotes show a significant decrease in the number of RGCs in the central retina, as a result of RGC apoptosis
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• by P28, homozygotes display significant retinal neurodegeneration in the form of a reduced number of RGCs
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• homozygotes display blood-retinal barrier (BRB) dysfunction leading to retinal neurodegeneration
• BRB dysfunction manifests as vascular leakage with normal tight junction formation
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nervous system
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• by P28, homozygotes show a significant decrease in the number of RGCs in the central retina, as a result of RGC apoptosis
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• by P28, homozygotes display significant retinal neurodegeneration in the form of a reduced number of RGCs
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• homozygotes display blood-retinal barrier (BRB) dysfunction leading to retinal neurodegeneration
• BRB dysfunction manifests as vascular leakage with normal tight junction formation
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cellular
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• by P28, homozygotes display increased RGC apoptosis, as determined by positive cleaved caspase 3 staining
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• adult homozygotes exhibit basement membrane deposition defects in the retina
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renal/urinary system
| N |
• at E17.5, homozygotes show no apparent defect in mesangial cell recruitment relative to wild-type controls
• no histologic defects are observed in adult kidneys
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homeostasis/metabolism
| N |
• despite exhibiting classic features of diabetic retinopathy, homozygotes have normal glucose tolerance and express normal insulin and glucagon levels and, therefore, are not diabetic
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| severe nonproliferative diabetic retinopathy | DOID:8946 | J:199483 | ||
