Mouse Genome Informatics
hm
    Hsd11b2tm1Yko/Hsd11b2tm1Yko
involves: 129P2/OlaHsd * MF1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Hyperplasia and hypertrophy of the distal renal tubular epithelium in Hsd11b2tm1Yko/Hsd11b2tm1Yko mice

mortality/aging
• normal numbers at E18.5
• appear normal at birth but approximately 50% mortality within 48 hours with motor weakness, reduced suckling, abdominal swelling with intestinal loop dilation
• mice surviving beyond 48 hours reach adulthood
• 16% of males and 13% of females die suddenly between 2 and 4 months of age with no obvious cause of death

renal/urinary system
• reduced urinary concentrations of creatinine
• reduced concentrations of potassium in urine
• reduced concentrations of sodium in urine
• distal tubule enlargement
• 3-4 fold increase in diameter due to both hyperplasia and hypertrophy
• first appears around 1 week of age
• clearly evident in all mice by 3 weeks of age
• hypotonic polyuria

cardiovascular system
• non-significant heart weight/body weight ratio at 3 months of age
• young adults are markedly hypertensive, with a mean arterial blood pressure of 146 +/- 2 mmHg vs 121 +/- 2 mmHg in wild-type and 114 +/- 4 mmHg in heterozygotes

homeostasis/metabolism
• reduced urinary concentrations of creatinine
• plasma aldosterone levels are seriously depressed
• reduced concentrations of potassium in urine
• reduced concentrations of sodium in urine

behavior/neurological
• reduced suckling behavior in mice dying within 48 hours of birth
• motor weakness in mice dying within 48 hours of birth

muscle

digestive/alimentary system
• abdominal swelling with intestinal loop dilation in mice dying within 48 hours of birth

cellular

Mouse Models of Human Disease
OMIM IDRef(s)
Apparent Mineralocorticoid Excess; AME 218030 J:53391