Phenotypes Associated with This Genotype

Genotype
MGI:3712576

• Allelic Composition: Umod^urehr4/Umod^urehr4
• Genetic Background: C3HeB/FeJ-Umod^urehr4

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

homeostasis/metabolism

abnormal blood homeostasis ( J:153895 )

• at 4 months of age, circulating urea levels are higher than in wild-type mice

increased blood uric acid level ( J:153895 )

• in female mice at 4 months of age

abnormal circulating lipid level ( J:153895 )

• at 4 months of age, mice exhibit a decrease in nonesterified fatty acids compared with wild-type mice

decreased circulating cholesterol level ( J:153895 )

• at 4 months of age

decreased circulating triglyceride level ( J:153895 )

• at 4 months of age

increased circulating calcium level ( J:153895 )

• moderately in male mice at 4 months of age

uremia ( J:153895 )

increased circulating creatinine level ( J:121470 , J:153895 )

• increased levels are seen in phenotypic mutants (J:121470)

• strongly at 4 months of age (J:153895)

increased blood urea nitrogen level ( J:121470 )

• mice have pathological plasma urea levels with 60% penetrance (phenotypic mutants) when analyzed at 3 months (2 measurements >70 mg/dl within 3-week period)

decreased body temperature ( J:153895 )

abnormal urine homeostasis ( J:153895 )

• mice exhibit increased excretion of calcium (3-fold), chloride (in males only), magnesium (males only), creatinine (males only), and urea (males only) compared with wild-type mice

• mice exhibit decreased uric acid excretion compared with wild-type mice

• urine to plasma ratios of sodium and potassium is decreased compared to in wild-type mice

• urine to plasma ratios of urea and uric acid are decreased 2- to 3-fold compared to in wild-type mice

increased urine potassium level ( J:153895 )

• in male mice

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

increased urine sodium level ( J:153895 )

• in male mice

decreased urine osmolality ( J:153895 )

• at 3 to 4 months, mice exhibit a decrease in urine osmolality compared with wild-type mice

• water deprived mice exhibit a decrease in urine osmolality compared with similarly treated wild-type mice

decreased basal metabolism ( J:153895 )

• 21 hour metabolic rate is decreased compared to in wild-type mice

• minimal metabolic rate is decreased in male mice compared to in wild-type mice

renal/urinary system

renal/urinary system phenotype ( J:153895 )

N • mice exhibit normal kidney morphology

abnormal urine homeostasis ( J:153895 )

• mice exhibit increased excretion of calcium (3-fold), chloride (in males only), magnesium (males only), creatinine (males only), and urea (males only) compared with wild-type mice

• mice exhibit decreased uric acid excretion compared with wild-type mice

• urine to plasma ratios of sodium and potassium is decreased compared to in wild-type mice

• urine to plasma ratios of urea and uric acid are decreased 2- to 3-fold compared to in wild-type mice

increased urine potassium level ( J:153895 )

• in male mice

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

increased urine sodium level ( J:153895 )

• in male mice

decreased urine osmolality ( J:153895 )

• at 3 to 4 months, mice exhibit a decrease in urine osmolality compared with wild-type mice

• water deprived mice exhibit a decrease in urine osmolality compared with similarly treated wild-type mice

polyuria ( J:153895 )

• at 3 to 4 months, mice exhibit a 1.5-fold increase in urine production compared with wild-type mice

• water-deprived mice produce 40% more urine than in similarly treated wild-type mice

skeleton

abnormal bone structure ( J:153895 )

• at 6 months, total and cortical bone content in male mice is reduced at the distal femoral metaphysis and diaphysis compared with wild-type mice

decreased bone mineral content ( J:153895 )

• at 4 months, bone mineral content is decreased compared to wild-type mice

decreased bone mineral density ( J:153895 )

• at 4 months, bone mineral density is decreased compared to wild-type mice

decreased bone mineral density of femur ( J:153895 )

• at 6 months, male mice exhibit a decrease in total, trabecular, and cortical bone density at the femoral diaphysis compared with wild-type mice

growth/size/body

increased lean body mass ( J:153895 )

decreased body weight ( J:153895 )

adipose tissue

decreased total body fat amount ( J:153895 )

decreased percent body fat/body weight ( J:153895 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
kidney disease		DOID:557		J:153895