Phenotypes associated with this allele

• Allele Symbol: Umod^Urehd1
• Allele Name: urea phenotype
• Allele ID: MGI:3712279
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Umod^Urehd1/Umod^Urehd1	involves: C3HeB/FeJ	MGI:5571287
ht2	Umod^Urehd1/Umod^+	C3HeB/FeJ-Umod^Urehd1	MGI:3712572
ht3	Umod^Urehd1/Umod^+	involves: C3HeB/FeJ	MGI:5571280

Genotype
MGI:5571287

hm1

• Allelic Composition: Umod^Urehd1/Umod^Urehd1
• Genetic Background: involves: C3HeB/FeJ

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

growth/size/body

decreased body weight ( J:201084 )

• from 5 weeks of age onwards

homeostasis/metabolism

increased blood urea nitrogen level ( J:201084 )

• significant increase in male and female from 2 weeks of age onwards

• concentrations increase with age

• levels are higher than in heterozygous mutants and in mice homozygous for Umod^urehr4

renal/urinary system

renal interstitial fibrosis ( J:201084 )

♂ • at 20-22 months of age, more severe than heterozygous mutants

renal tubular necrosis ( J:201084 )

♂ • at 20-22 months of age, more severe than heterozygous mutants

decreased renal glomerular filtration rate ( J:201084 )

• elevated plasma cystatin C levels indicate decreased glomerular filtration rate at 4 months of age

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

Genotype
MGI:3712572

ht2

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

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

Genotype
MGI:5571280

ht3

• Allelic Composition: Umod^Urehd1/Umod⁺
• Genetic Background: involves: C3HeB/FeJ

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