Mouse Genome Informatics
hm1
    Acetm1Mcf/Acetm1Mcf
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes are born at the expected Mendelian frequecies; however, most of them die by 3 weeks of age

renal/urinary system
• mutant kidneys display vessel-wall hypertrophy
• 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
• the mutant cortex displays perivascular and tubulo-interstitial chronic inflammatory infiltrates
• the fan-like medullary rays are absent
• mutant kidneys display dilation of the Bowman's capsule
• mutant kidneys exhibit cortical atrophy
• homozygotes exhibit a disorganized renal medulla that appears to be compressed by pelvic cystic dilation and medullary cysts
• homozygotes display a distorted, shrunken renal pelvis with septate cavernous cystic spaces; however, no ureteral obstruction is observed

homeostasis/metabolism
• 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
• 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

immune system
• the mutant cortex displays perivascular and tubulo-interstitial chronic inflammatory infiltrates

cardiovascular system
• mutant kidneys display vessel-wall hypertrophy

reproductive system
N
• unlike Acetm1Unc homozygotes, which lack both isoforms of the protein and display reduced male fertility, homozygotes that retain the testicular isoform are fully fertile (J:32114)