Analysis Tools
mortality/aging
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• homozygotes are born at the expected Mendelian frequecies; however, most of them die by 3 weeks of age
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renal/urinary system
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• mutant kidneys display vessel-wall hypertrophy
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• homozygotes fail to concentrate their urine to >820 mOsm l-1 after 2 hrs of fluid deprivation, whereas wild-type and heterozygous littermates concentrate their urine to >4,000 mOsm l-1
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• the mutant cortex displays perivascular and tubulo-interstitial chronic inflammatory infiltrates
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• the fan-like medullary rays are absent
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• mutant kidneys display dilation of the Bowman's capsule
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• mutant kidneys exhibit cortical atrophy
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• homozygotes exhibit a disorganized renal medulla that appears to be compressed by pelvic cystic dilation and medullary cysts
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• homozygotes display a distorted, shrunken renal pelvis with septate cavernous cystic spaces; however, no ureteral obstruction is observed
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homeostasis/metabolism
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• at 4 months, homozygotes are uremic, with mean BUN of 0.52 mg ml-1 vs 0.15 mg ml-1 in age-matched wild-type mice
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• homozygotes fail to concentrate their urine to >820 mOsm l-1 after 2 hrs of fluid deprivation, whereas wild-type and heterozygous littermates concentrate their urine to >4,000 mOsm l-1
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immune system
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• the mutant cortex displays perivascular and tubulo-interstitial chronic inflammatory infiltrates
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cardiovascular system
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• mutant kidneys display vessel-wall hypertrophy
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reproductive system
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• unlike Acetm1Unc homozygotes, which lack both isoforms of the protein and display reduced male fertility, homozygotes that retain the testicular isoform are fully fertile
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growth/size/body
