Phenotypes associated with this allele

• Allele Symbol: Slc12a1^urehr3
• Allele Name: urea phenotype 3
• Allele ID: MGI:3712283
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a1^urehr3/Slc12a1^urehr3	C3HeB/FeJ-Slc12a1^urehr3	MGI:3712575
hm2	Slc12a1^urehr3/Slc12a1^urehr3	involves: C3HeB/FeJ	MGI:4457194

Genotype
MGI:3712575

hm1

• Allelic Composition: Slc12a1^urehr3/Slc12a1^urehr3
• Genetic Background: C3HeB/FeJ-Slc12a1^urehr3

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

renal/urinary system

decreased urine creatinine level ( J:121470 )

• urinary creatinine and urea/creatinine ratios are decreased in 24 hour urine output of phenotypic mutants

decreased urine sodium level ( J:121470 )

• urine sodium/creatinine and chloride/creatinine ratios tend to be decreased in 24-hour urine and spot urine samples of phenotypic mutants

abnormal kidney morphology ( J:121470 )

• phenotypic mutants (ie. mice with pathological plasma urea levels) show kidney morphological defects

kidney papillary atrophy ( J:121470 )

• atrophy of renal papilla is commonly found in phenotypic mutants

hydronephrosis ( J:121470 )

• in 4- and 10-month old phenotypic male mutants, uni- or bilateral dilatation of the renal pelvis is observed in phenotypic mutants

abnormal renal tubule morphology ( J:121470 )

• focal calcification of tubular epithelial cells is prominently seen in phenotypic mutants

nephrocalcinosis ( J:121470 )

• focal calcification of tubular epithelial cells is prominently seen

polyuria ( J:121470 )

• observed in phenotypic mutants

homeostasis/metabolism

increased circulating creatinine level ( J:121470 )

• increased levels are seen in phenotypic mutants

decreased urine creatinine level ( J:121470 )

• urinary creatinine and urea/creatinine ratios are decreased in 24 hour urine output of phenotypic mutants

increased blood urea nitrogen level ( J:121470 )

• mice have pathological plasma urea levels with 91% penetrance when analyzed at 3 months (2 measurements >70 mg/dl within 3-week period)

decreased circulating glucose level ( J:121470 )

• reduced plasma glucose is observed in phenotypic mutants

decreased circulating chloride level ( J:121470 )

• significantly reduced plasma chloride level is observed in phenotypic mutants

decreased urine sodium level ( J:121470 )

• urine sodium/creatinine and chloride/creatinine ratios tend to be decreased in 24-hour urine and spot urine samples of phenotypic mutants

behavior/neurological

polydipsia ( J:121470 )

• observed in phenotypic mutants

Genotype
MGI:4457194

hm2

• Allelic Composition: Slc12a1^urehr3/Slc12a1^urehr3
• Genetic Background: involves: C3HeB/FeJ

reproductive system

reproductive system phenotype ( J:159994 )

N • mice exhibit normal fertility

renal/urinary system

abnormal urine homeostasis ( J:159994 )

• 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

increased urine creatinine level ( J:159994 )

increased urine calcium level ( J:159994 )

• 4-fold increase in calcium excretion

increased urine potassium level ( J:159994 )

increased urine sodium level ( J:159994 )

increased urine magnesium level ( J:159994 )

• 4-fold increase in magnesium excretion

decreased urine osmolality ( J:159994 )

increased urine osmolality ( J:159994 )

• following water deprivation

increased urine prostaglandin level ( J:159994 )

• prostaglandin excretion is doubled in males and increased in females compared with wild-type mice

abnormal urine urea nitrogen level ( J:159994 )

• daily urinary excretion of urea is significantly increased in both genders

• fractional excretion of urea is strongly decreased indicating a urea-selective handling defect

decreased urine uric acid level ( J:159994 )

• mice exhibit a 2-fold decline in uric acid excretion compared with wild-type mice

pyelitis ( J:159994 )

• mice often exhibit variable degrees of chronic purulent pyelitis with purulent exudate and bacteria in the renal pelvis unlike wild-type mice

pyelonephritis ( J:159994 )

• a few male mice exhibit purulent pyelonephritis progressing to end-stage kidneys

kidney papillary atrophy ( J:159994 )

• mice exhibit atrophy of renal papilla unlike in wild-type mice

hydronephrosis ( J:159994 )

• 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

nephrocalcinosis ( J:159994 )

• occasionally mice exhibit focal calcification of interstititum and tubular epithelial cells unlike wild-type mice

increased creatinine clearance ( J:159994 )

• in male mice

polyuria ( J:159994 )

• daily urine volume is 3- to 4-fold higher than in heterozygous mice

• however, osmotic diuresis is not observed

homeostasis/metabolism

abnormal blood homeostasis ( J:159994 )

• mice exhibit a decrease in urine to plasma ratios of urea and uric acid compared with wild-type mice

decreased circulating creatinine level ( J:159994 )

increased blood urea nitrogen level ( J:159994 )

• 2-fold higher plasma urea levels

increased circulating atrial natriuretic factor ( J:159994 )

increased circulating calcium level ( J:159994 )

• in female mice

increased circulating magnesium level ( J:159994 )

increased circulating alkaline phosphatase level ( J:159994 )

• female mice show elevated alkaline phosphatase activity in plasma

decreased circulating renin level ( J:159994 )

• whether anesthetized or not

decreased circulating chloride level ( J:159994 )

• mice exhibit hypochloremic metabolic alkalosis compared with wild-type mice

alkalosis ( J:159994 )

• mice exhibit hypochloremic metabolic alkalosis compared with wild-type mice

abnormal urine homeostasis ( J:159994 )

• 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

increased urine creatinine level ( J:159994 )

increased urine calcium level ( J:159994 )

• 4-fold increase in calcium excretion

increased urine potassium level ( J:159994 )

increased urine sodium level ( J:159994 )

increased urine magnesium level ( J:159994 )

• 4-fold increase in magnesium excretion

decreased urine osmolality ( J:159994 )

increased urine osmolality ( J:159994 )

• following water deprivation

increased urine prostaglandin level ( J:159994 )

• prostaglandin excretion is doubled in males and increased in females compared with wild-type mice

abnormal urine urea nitrogen level ( J:159994 )

• daily urinary excretion of urea is significantly increased in both genders

• fractional excretion of urea is strongly decreased indicating a urea-selective handling defect

decreased urine uric acid level ( J:159994 )

• mice exhibit a 2-fold decline in uric acid excretion compared with wild-type mice

cardiovascular system

decreased mean systemic arterial blood pressure ( J:159994 )

decreased systemic arterial systolic blood pressure ( J:159994 )

skeleton

abnormal bone structure ( J:159994 )

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

decreased bone mineral density ( J:159994 )

• at 9 months

growth/size/body

weight loss ( J:159994 )

• following water deprivation

behavior/neurological

behavior/neurological phenotype ( J:159994 )

N • mice exhibit normal behavior

immune system

pyelitis ( J:159994 )

• mice often exhibit variable degrees of chronic purulent pyelitis with purulent exudate and bacteria in the renal pelvis unlike wild-type mice

pyelonephritis ( J:159994 )

• a few male mice exhibit purulent pyelonephritis progressing to end-stage kidneys

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bartter disease type 1		DOID:0110142	OMIM:601678	J:159994