mortality/aging
• 4 of 6 females and 1 of 3 males died at various ages; among them, one female and one male died at 7 and 6 weeks of age, respectively
• more than half of survivors died of hydronephrosis before 1 year of age
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• cross between heterozygotes yielded only 9 homozygotes (6 females, 3 males) out of 203 progeny at 2 weeks of age (4.4% of total offspring)
• however, homozygotes were found at normal Mendelian ratios at E18.5
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growth/size/body
• at 5-14 weeks of age, surviving males and females exhibited significantly reduced body weight relative to age-matched controls
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kidney cyst
(
J:260667
)
• both hydronephrotic and normal looking kidneys showed cyst formations
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• hydronephrotic kidneys showed cyst formations within the cortex
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• hydronephrotic kidneys showed cyst formations within the medulla
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• rare survivors exhibited significantly lower body weight gain relative to controls
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• dead homozygotes exhibited larger kidneys
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renal/urinary system
• at E18.5, most cells of the renal parenchyma had pycnotic TUNEL+ nuclei
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kidney cyst
(
J:260667
)
• both hydronephrotic and normal looking kidneys showed cyst formations
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• hydronephrotic kidneys showed cyst formations within the cortex
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• hydronephrotic kidneys showed cyst formations within the medulla
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• dead homozygotes exhibited larger kidneys
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• hydronephrotic kidneys showed mononuclear cell infiltration
• normal looking kidneys showed eosinophilic infiltrations
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• kidneys of full-term (E18.5) embryos showed abnormal collecting tubules
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• live newborns showed severe luminal expansion of collecting ducts
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• kidneys of live neonates and full-term (E18.5) embryos showed abnormal lining cell layer detachments from walls of collecting and convoluted tubules
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• hydronephrotic kidneys showed fibrosis of the interstitium
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• dead homozygotes exhibited hydronephrosis
• hydronephrotic kidneys showed chronic progressive nephropathies including fibrosis of the interstitium, mononuclear cell infiltration, cyst formations within the cortex or medulla, and pelvic dilation
• normal looking kidneys also showed chronic nephropathic changes, including cyst formations and eosinophilic infiltrations
• kidneys of all 4 long survivors (2 males and 2 females) showed weak nephropathic changes such as leukocyte infiltrations and small cyst formation
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• kidneys of live newborns showed detachment of tubular wall lining cell layer from the basal layer and the presence of materials filling the space between the detached cell layer and the basal layer
• kidneys of full-term (E18.5) embryos displayed more severe lesions than kidneys of live neonates; detachment of tubular wall lining cell layer from the basal layer was also observed but the space in embryonic kidneys was almost empty
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pale kidney
(
J:260667
)
• dead homozygotes exhibited pale kidneys
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immune system
• hydronephrotic kidneys showed mononuclear cell infiltration
• normal looking kidneys showed eosinophilic infiltrations
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cellular
• at E18.5, most cells of the renal parenchyma had pycnotic TUNEL+ nuclei
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