mortality/aging
• fewer than expected homozygous mice are found
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cardiovascular system
• cultured cells show an increase in the number of multivacuolated cells and a decrease in the number of vacuolated cells
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• at P4 while the area covered by the advancing retinal tree is comparable to wild-type controls tip cells containing large intracellular vacuole are more common and multivacuolated structures are more frequently found behind the front of the expanding vascular tree
• at P7 the radial fraction of the vascular network to the retinal as a whole is reduced suggesting a delay in vascular development
• at P21 the retinal vascular tree is less dense and less complex compared to wild-type controls
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• formation of blood filled vessels is decreased by about 60% in matrigel plug assays
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• retinal vascular regrowth following high oxygen exposure is reduced compared to controls
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• formation of blood filled vessels is decreased by about 60% in matrigel plug assays
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• average pH of large vacuoles is increased indicating a defect in acidification of these vacuoles
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reproductive system
• females show an increase in the occurrence of stillbirths independent of the genotype of the pups
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growth/size/body
• males weigh significantly less than control males
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vision/eye
• at P4 while the area covered by the advancing retinal tree is comparable to wild-type controls tip cells containing large intracellular vacuole are more common and multivacuolated structures are more frequently found behind the front of the expanding vascular tree
• at P7 the radial fraction of the vascular network to the retinal as a whole is reduced suggesting a delay in vascular development
• at P21 the retinal vascular tree is less dense and less complex compared to wild-type controls
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