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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acetm1Mcf
targeted mutation 1, Mark C Fishman
MGI:2155955
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acetm1Mcf/Acetm1Mcf Not Specified MGI:3618229


Genotype
MGI:3618229
hm1
Allelic
Composition
Acetm1Mcf/Acetm1Mcf
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acetm1Mcf mutation (0 available); any Ace mutation (15 available)
phenotype observed in females
phenotype observed in males
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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory