mortality/aging
• the one homozygote that survived past weaning died on P42
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• fewer than expected embryos are found starting at E16.5
• the expected proportion of homozygous embryos is present at E15.5
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• almost all mice born die within 2 days of birth
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• only about half of the expected number of mice are found at birth
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growth/size/body
• the kidneys of the single post-weaning survivor contained multiple, fluid-filled cysts associated with flattened tubular epithelial cells and vacuolar degeneration of these epithelial cells
• at birth, some of the hypoplastic kidneys also show polycystic changes
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• the one mouse that survived past weaning showed severe growth retardation
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• from E14.5 to E19.5 fetal body weight is reduced relative to wild-type and heterozygous littermates
• from E14.5 to E19.5 fetal body weight is about 70% that of wild-type littermates
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renal/urinary system
• subtle asymmetries of the right and left kidney are seen in some mice at birth
• no obvious differences are seen in ureteric bud branching at E13.5
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• the kidneys of the single post-weaning survivor contained multiple, fluid-filled cysts associated with flattened tubular epithelial cells and vacuolar degeneration of these epithelial cells
• at birth, some of the hypoplastic kidneys also show polycystic changes
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• at birth, average kidney weight is only 0.23% of total body weight compared to 0.51% in wild-type mice
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• seen at birth
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• at birth, some mice with hypoplastic kidneys also lack functional nephrons
• in more than half of the mice basic glomerular and tubular structure are preserved
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• reduced in number and in density compared to wild-type mice
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homeostasis/metabolism
• seen in all homozygous mice at birth
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vision/eye
• seen in all homozygotes as the result of impaired eyelid closure
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integument
• in vitro assays using keratinocytes show a significant delay in healing 3 hours after scratching suggesting reduced keratinocyte motility
• however no change in cell proliferation is detected
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