Mouse Genome Informatics
hm
    Slc12a1urehr3/Slc12a1urehr3
involves: C3HeB/FeJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
reproductive system
N
• mice exhibit normal fertility (J:159994)

renal/urinary system
• uromodulin excretion is reduced compared to in wild-type mice
• mice exhibit a decrease in urine to plasma ratios of urea and uric acid compared with wild-type mice
• 4-fold increase in calcium excretion
• 4-fold increase in magnesium excretion
• following water deprivation
• prostaglandin excretion is doubled in males and increased in females compared with wild-type mice
• daily urinary excretion of urea is significantly increased in both genders
• fractional excretion of urea is strongly decreased indicating a urea-selective handling defect
• mice exhibit a 2-fold decline in uric acid excretion compared with wild-type mice
• mice often exhibit variable degrees of chronic purulent pyelitis with purulent exudate and bacteria in the renal pelvis unlike wild-type mice
• a few male mice exhibit purulent pyelonephritis progressing to end-stage kidneys
• mice exhibit atrophy of renal papilla unlike in wild-type mice
• mice exhibit unilateral or bilateral dilation of the renal pelvis with atrophy of renal papilla unlike in wild-type mice
• male mice exhibit a more severe phenotype than female mice and worsens with age
• occasionally mice exhibit focal calcification of interstititum and tubular epithelial cells unlike wild-type mice
• daily urine volume is 3- to 4-fold higher than in heterozygous mice
• however, osmotic diuresis is not observed

homeostasis/metabolism
• mice exhibit a decrease in urine to plasma ratios of urea and uric acid compared with wild-type mice
• 2-fold higher plasma urea levels
• female mice show elevated alkaline phosphatase activity in plasma
• whether anesthetized or not
• mice exhibit hypochloremic metabolic alkalosis compared with wild-type mice
• mice exhibit hypochloremic metabolic alkalosis compared with wild-type mice
• uromodulin excretion is reduced compared to in wild-type mice
• mice exhibit a decrease in urine to plasma ratios of urea and uric acid compared with wild-type mice
• 4-fold increase in calcium excretion
• 4-fold increase in magnesium excretion
• following water deprivation
• prostaglandin excretion is doubled in males and increased in females compared with wild-type mice
• daily urinary excretion of urea is significantly increased in both genders
• fractional excretion of urea is strongly decreased indicating a urea-selective handling defect
• mice exhibit a 2-fold decline in uric acid excretion compared with wild-type mice

cardiovascular system

skeleton
• male mice exhibit a decrease in total bone content and total bone area compared with wild-type mice

growth/size/body
• following water deprivation

behavior/neurological
N
• mice exhibit normal behavior (J:159994)

immune system
• mice often exhibit variable degrees of chronic purulent pyelitis with purulent exudate and bacteria in the renal pelvis unlike wild-type mice
• a few male mice exhibit purulent pyelonephritis progressing to end-stage kidneys

Mouse Models of Human Disease
OMIM IDRef(s)
Bartter Syndrome, Antenatal, Type 1 601678 J:159994