Phenotypes Associated with This Genotype

Genotype
MGI:3606235

• Allelic Composition: Hsd11b2^tm1Yko/Hsd11b2^tm1Yko
• Genetic Background: involves: 129P2/OlaHsd * MF1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Hyperplasia and hypertrophy of the distal renal tubular epithelium in Hsd11b2^tm1Yko/Hsd11b2^tm1Yko mice

mortality/aging

premature death ( J:53391 )

• 16% of males and 13% of females die suddenly between 2 and 4 months of age with no obvious cause of death

postnatal lethality, incomplete penetrance ( J:53391 )

• 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

renal/urinary system

decreased urine creatinine level ( J:53391 )

• reduced urinary concentrations of creatinine

decreased urine potassium level ( J:53391 )

• reduced concentrations of potassium in urine

decreased urine sodium level ( J:53391 )

• reduced concentrations of sodium in urine

abnormal kidney morphology ( J:53391 )

enlarged kidney ( J:53391 )

dilated distal convoluted tubule ( J:53391 )

• 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

polyuria ( J:53391 )

• hypotonic polyuria

cardiovascular system

increased heart weight ( J:53391 )

• non-significant heart weight/body weight ratio at 3 months of age

abnormal fetal cardiomyocyte proliferation ( J:53391 )

• myocyte hypertrophy

hypertension ( J:53391 )

• 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

decreased urine creatinine level ( J:53391 )

• reduced urinary concentrations of creatinine

decreased circulating aldosterone level ( J:53391 )

• plasma aldosterone levels are seriously depressed

decreased circulating potassium level ( J:53391 )

• hypokalemia

decreased circulating chloride level ( J:53391 )

• hypochloremia

decreased urine potassium level ( J:53391 )

• reduced concentrations of potassium in urine

decreased urine sodium level ( J:53391 )

• reduced concentrations of sodium in urine

behavior/neurological

abnormal suckling behavior ( J:53391 )

• reduced suckling behavior in mice dying within 48 hours of birth

weakness ( J:53391 )

• motor weakness in mice dying within 48 hours of birth

muscle

abnormal fetal cardiomyocyte proliferation ( J:53391 )

• myocyte hypertrophy

digestive/alimentary system

abnormal intestine morphology ( J:53391 )

• abdominal swelling with intestinal loop dilation in mice dying within 48 hours of birth

cellular

abnormal fetal cardiomyocyte proliferation ( J:53391 )

• myocyte hypertrophy

growth/size/body

increased heart weight ( J:53391 )

• non-significant heart weight/body weight ratio at 3 months of age

enlarged kidney ( J:53391 )