All Phenotypes Umod<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Umod^tm1Xrw/Umod⁺	B6.129S6-Umod^tm1Xrw	MGI:5429728
ht2	Umod^Urehd1/Umod⁺	C3HeB/FeJ-Umod^Urehd1	MGI:3712572
ht3	Umod^urehr4/Umod⁺	C3HeB/FeJ-Umod^urehr4	MGI:4367251
ht4	Umod^em1Duf/Umod⁺	C57BL/6J-Umod^em1Duf	MGI:6162682
ht5	Umod^tm1.1Rvt/Umod⁺	either: B6J.129-Umod^tm1.1Rvt or (involves: 129S1/Sv * 129X1/SvJ)	MGI:6160896
ht6	Umod^Urehd1/Umod⁺	involves: C3HeB/FeJ	MGI:5571280

Allelic Composition	Umod^tm1Xrw/Umod⁺
Genetic Background	B6.129S6-Umod^tm1Xrw

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Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Umod^tm1Xrw mutation (0 available); any Umod mutation (5 available)

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

renal/urinary system

hydronephrosis ( J:163552 )

• at 5-8 months of age, 2 of 18 male mice but none of 8 female mice exhibit hydronephrosis

• by 15 months of age, 3 of 4 male mice and 1 of 3 female mice exhibit hydronephrosis with increased severity

• both unilateral and bilateral hydronephrosis are observed

nephrocalcinosis ( J:163552 )

• at 5-8 months of age, 33.3% of male and 25% of female mice exhibit spontaneous renal papillary calcinosis

• by 15 months of age, 75% of male and 33.3% of female mice develop renal papillary calcium crystallization

urolithiasis ( J:163552 )

• most hydronephrotic mice exhibit stone-like structures in the ureter and renal pelvis

Allelic Composition	Umod^Urehd1/Umod⁺
Genetic Background	C3HeB/FeJ-Umod^Urehd1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Umod^Urehd1 mutation (0 available); any Umod mutation (5 available)

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

growth/size/body

decreased body weight ( J:121470 )

• phenotypic mutant mice eat more, but gain less weight than controls

adipose tissue

decreased total body fat amount ( J:121470 )

• 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 of both sexes

increased blood urea nitrogen level ( J:121470 )

• mice have pathological plasma urea levels with 73% penetrance (phenotypic mutants) when analyzed at 3 months (2 measurements >70 mg/dl within 3-week period) compared to controls

decreased circulating glucose level ( J:121470 )

• reduced plasma glucose is observed in phenotypic mutants

increased urine potassium level ( J:121470 )

• urine potassium/creatinine ratio is increased in 24-hour and spot urine samples 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

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 of both sexes

increased urine potassium level ( J:121470 )

• urine potassium/creatinine ratio is increased in 24-hour and spot urine samples 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

decreased renal glomerular filtration rate ( J:121470 )

• rate is decreased in phenotypic mutants of both sexes

polyuria ( J:121470 )

• observed in phenotypic mutants

behavior/neurological

increased fluid intake ( J:121470 )

• phenotypic mutants show increased water intake in metabolism cages

increased food intake ( J:121470 )

• phenotypic mutant mice show increased food intake

Allelic Composition	Umod^urehr4/Umod⁺
Genetic Background	C3HeB/FeJ-Umod^urehr4

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Umod^urehr4 mutation (0 available); any Umod mutation (5 available)

♀	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 moderately higher than in wild-type mice

increased circulating creatinine level ( J:153895 )

• moderately at 4 months of age

increased blood urea nitrogen level ( J:201084 )

• urea levels normal at 2 weeks of age but significantly increased at 4 months of age concentrations increase with 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

decreased body temperature ( J:153895 )

decreased basal metabolism ( J:153895 )

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

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

adipose tissue

decreased total body fat amount ( J:153895 )

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

growth/size/body

increased lean body mass ( J:153895 )

decreased body weight ( J:153895 )

skeleton

decreased bone mineral content ( J:153895 )

• bone mineral content is decreased compared to wild-type mice

decreased bone mineral density ( J:153895 )

• bone mineral density is decreased compared to wild-type mice

renal/urinary system

renal interstitial fibrosis ( J:201084 )

• at 20-22 months of age

renal tubular necrosis ( J:201084 )

• at 20-22 months of age

Allelic Composition	Umod^em1Duf/Umod⁺
Genetic Background	C57BL/6J-Umod^em1Duf

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Umod^em1Duf mutation (0 available); any Umod mutation (5 available)

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

renal/urinary system

increased kidney apoptosis ( J:252597 )

• marker analysis indicates activation of apoptotic genes in the kidney

kidney inflammation ( J:252597 )

• marker analysis indicates activation of innate immunity genes in the kidney

renal interstitial fibrosis ( J:252597 )

• widespread interstitial fibrosis in both the cortex and medulla of the kidney, with deposition of fibrotic matrix by 24 weeks

• increase in collagens I and III in the kidney

• increase in fibrotic disease markers including laminin, fibronectin, collagen type I, and serpine1

decreased kidney weight ( J:252597 )

• kidney weights are lower by 24 weeks, and a nearly 50% reduction in kidney mass is seen by 30 weeks

abnormal proximal convoluted tubule morphology ( J:252597 )

• marker analysis indicates kidney tubular damage in the proximal tubule

isosthenuria ( J:252597 )

• urine-specific gravity indicates decreased concentrating capacity of urine

kidney failure ( J:252597 )

cellular

abnormal autophagy ( J:252597 )

• marker analysis indicates that kidneys are deficient in autophagy

increased kidney apoptosis ( J:252597 )

• marker analysis indicates activation of apoptotic genes in the kidney

increased endoplasmic reticulum stress ( J:252597 )

• kidneys undergo ER stress

• ER stress upregulation precedes cell death and active suppression of autophagy is a late response to disease

growth/size/body

decreased body weight ( J:252597 )

• the expected increase in body weight with aging does not occur

homeostasis/metabolism

abnormal autophagy ( J:252597 )

• marker analysis indicates that kidneys are deficient in autophagy

increased circulating creatinine level ( J:252597 )

• serum creatinine levels are elevated by 12 weeks of age and progressively increase between 12 and 30 weeks

increased blood urea nitrogen level ( J:252597 )

• blood urea nitrogen levels are elevated by 12 weeks of age and progressively increase between 12 and 30 weeks

immune system

kidney inflammation ( J:252597 )

• marker analysis indicates activation of innate immunity genes in the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
kidney disease		DOID:557		J:252597

Allelic Composition	Umod^tm1.1Rvt/Umod⁺
Genetic Background	either: B6J.129-Umod^tm1.1Rvt or (involves: 129S1/Sv * 129X1/SvJ)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Umod^tm1.1Rvt mutation (2 available); any Umod mutation (5 available)

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

homeostasis/metabolism

increased circulating creatinine level ( J:242593 )

• plasma creatinine level is increased by about 1.5-fold in 6 month old males

• plasma uric acid levels and sodium and potassium concentrations are normal

increased blood osmolality ( J:242593 )

• in 6 month old males, the large excretion of dilute urine causes plasma osmolality to rise

increased blood urea nitrogen level ( J:242593 )

• plasma urea levels are increased about 1.5-fold by 6 months of age

• plasma urea increases between 8 week and 6 month old mice by about 1.8-fold in males and 1.2-fold in females, indicating progressive renal failure

increased urine calcium level ( J:242593 )

• urinary calcium excretion is elevated by about 1.6-fold in 8 week old females and about 1.6-fold in females and 1.5-fold in males at 6 months of age

decreased urine osmolality ( J:242593 )

• 8 week old males and 6 month old males and females exhibit reduced urine osmolality

decreased urine pH ( J:242593 )

• 6 month old mice exhibit decreased urinary pH

decreased urine protein level ( J:242593 )

• 8 week old mice exhibit reduced uromodulin excretion of 66.8% and 69.1% in males and females, respectively

• 6 month old mice excrete less uromodulin than 8 week old mice

decreased urine uric acid level ( J:242593 )

• 24 hour uric acid excretion is decreased in 6 month old mice by up to 2.4-fold

• 6 month old mice exhibit reduced fractional excretion of uric acid (FEUA)

immune system

kidney inflammation ( J:242593 )

• kidneys show small areas of interstitial T-cells and macrophages at 6 months of age but not at 8 weeks

renal/urinary system

increased urine calcium level ( J:242593 )

• urinary calcium excretion is elevated by about 1.6-fold in 8 week old females and about 1.6-fold in females and 1.5-fold in males at 6 months of age

decreased urine osmolality ( J:242593 )

• 8 week old males and 6 month old males and females exhibit reduced urine osmolality

decreased urine pH ( J:242593 )

• 6 month old mice exhibit decreased urinary pH

decreased urine protein level ( J:242593 )

• 8 week old mice exhibit reduced uromodulin excretion of 66.8% and 69.1% in males and females, respectively

• 6 month old mice excrete less uromodulin than 8 week old mice

decreased urine uric acid level ( J:242593 )

• 24 hour uric acid excretion is decreased in 6 month old mice by up to 2.4-fold

• 6 month old mice exhibit reduced fractional excretion of uric acid (FEUA)

kidney inflammation ( J:242593 )

• kidneys show small areas of interstitial T-cells and macrophages at 6 months of age but not at 8 weeks

renal interstitial fibrosis ( J:242593 )

• at 6 months of age, kidneys exhibit mild interstitial fibrosis

• however, 8 week old kidneys do not exhibit abnormalities

kidney failure ( J:242593 )

• progressive

polyuria ( J:242593 )

• 6 month old males excrete 1.5-times more urine than wild-type males

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

growth/size/body

decreased body weight ( J:201084 )

• starting from 4 weeks of age in males and 7 weeks of age in females

renal glomerulus cyst ( J:201084 )

• in some mice at 20 months of age

adipose tissue

decreased total body fat amount ( J:201084 )

• 69-81% decrease in fat mass at 9 months of age

cellular

abnormal endoplasmic reticulum morphology ( J:201084 )

• strongly dilated in the perinuclear intracytoplasmic compartment of thick ascending limb of Henle's loop cells

skeleton

decreased bone mineral content ( J:201084 )

• at 9 months of age

decreased bone mineral density ( J:201084 )

• at 9 months of age

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:201084 )

N	• normal urea level at 2 weeks of age

increased circulating creatinine level ( J:201084 )

• in 8 months old

increased blood urea nitrogen level ( J:201084 )

• median plasma urea concentration is increased in males at 4 weeks of age

• significant increase in females but to a lesser extent than in male at 7 weeks of age

• significant increase in both males and females at 3 months and 8 months

• concentrations increase with age

decreased circulating cholesterol level ( J:201084 )

• in 8 months old

decreased circulating triglyceride level ( J:201084 )

• in 8 months old

increased circulating calcium level ( J:201084 )

• in 8 months old

decreased circulating iron level ( J:201084 )

• in 8 months old

decreased circulating phosphate level ( J:201084 )

• in 8 months old

increased circulating potassium level ( J:201084 )

• in 8 months old

increased circulating alkaline phosphatase level ( J:201084 )

• in 8 months old

decreased circulating ferritin level ( J:201084 )

• in 8 months old

decreased circulating transferrin level ( J:201084 )

• in 8 months old

increased urine calcium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine chloride ion level ( J:201084 )

• increase in fractional excretion at 9 months of age

increased urine potassium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine sodium level ( J:201084 )

• increase fractional excretion at 9 months of age

increased urine magnesium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

decreased urine osmolality ( J:201084 )

• with or without deprivation of drinking water

abnormal urine urea nitrogen level ( J:201084 )

• daily urea excretion is increased but fractional excretion and urine-to-plasma concentration ratio are decreased

decreased urine uric acid level ( J:201084 )

• decrease in 24 h excretion and fractional excretion at 9 months of age

renal/urinary system

renal glomerulus cyst ( J:201084 )

• in some mice at 20 months of age

increased urine calcium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine chloride ion level ( J:201084 )

• increase in fractional excretion at 9 months of age

increased urine potassium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

increased urine sodium level ( J:201084 )

• increase fractional excretion at 9 months of age

increased urine magnesium level ( J:201084 )

• increase in 24 h excretion and fractional excretion at 9 months of age

decreased urine osmolality ( J:201084 )

• with or without deprivation of drinking water

abnormal urine urea nitrogen level ( J:201084 )

• daily urea excretion is increased but fractional excretion and urine-to-plasma concentration ratio are decreased

decreased urine uric acid level ( J:201084 )

• decrease in 24 h excretion and fractional excretion at 9 months of age

dilated renal glomerular capsule ( J:201084 )

• in some mice at 20 months of age

renal interstitial fibrosis ( J:201084 )

• at 20 months of age

hydronephrosis ( J:201084 )

abnormal loop of Henle ascending limb thick segment morphology ( J:201084 )

• intracytoplasmic inclusions in cells at 4 months of age

• strongly dilated in the perinuclear intracytoplasmic compartment of thick ascending limb of Henle's loop cells

renal tubular necrosis ( J:201084 )

• at 20 months of age

increased urine flow rate ( J:201084 )

• in 9 month old mice with or without deprivation of drinking water

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
kidney disease		DOID:557		J:201084

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