Phenotypes associated with this allele

• Allele Symbol: Umod^tm1.1Rvt
• Allele Name: targeted mutation 1.1, Rajesh V Thakker
• Allele ID: MGI:6116661
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Umod^tm1.1Rvt/Umod^tm1.1Rvt	either: B6J.129-Umod^tm1.1Rvt or (involves: 129S1/Sv * 129X1/SvJ)	MGI:6160906
ht2	Umod^tm1.1Rvt/Umod^+	either: B6J.129-Umod^tm1.1Rvt or (involves: 129S1/Sv * 129X1/SvJ)	MGI:6160896

Genotype
MGI:6160906

hm1

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

• ♀: 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 1.8-fold in males and 1.2-fold in females at 6 months of age

increased blood osmolality ( J:242593 )

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

increased blood urea nitrogen level ( J:242593 )

• plasma urea levels are about 2-fold greater than in controls at 8 weeks of age and about 2.5-fold greater at 6 months

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

increased circulating calcium level ( J:242593 )

• 6 month old mice exhibit increased plasma corrected calcium concentrations

increased urine calcium level ( J:242593 )

• urinary calcium excretion is elevated by about 1.8-fold in 8 week old mice and by about 1.8-fold in females and 1.5-fold in males at 6 months of age

decreased urine osmolality ( J:242593 )

• urine is more dilute with an approximate 2-4-fold decreased urine osmolality

decreased urine pH ( J:242593 )

• urinary pH is reduced in 8 week old mice, with a 1.5-fold and 2.5-fold increases in urinary H+ ion concentrations in males and females, respectively

• urinary pH is also reduced in 6 month old mice

decreased urine protein level ( J:242593 )

• 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 4.8-fold

• 24 hour uric acid excretion is also decreased by about 1.6-fold in 8 week old males

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

increased alkaline phosphatase activity ( J:242593 )

• 6 month old mice exhibit increased plasma alkaline phosphatase activity

immune system

kidney inflammation ( J:242593 )

• kidneys show small areas of interstitial infiltrates, consisting of T-cells and macrophages, at 8 weeks of age

• kidneys have multiple, large areas of interstitial infiltrates, mainly in the medullary region, at 6 months of age

renal/urinary system

increased urine calcium level ( J:242593 )

• urinary calcium excretion is elevated by about 1.8-fold in 8 week old mice and by about 1.8-fold in females and 1.5-fold in males at 6 months of age

decreased urine osmolality ( J:242593 )

• urine is more dilute with an approximate 2-4-fold decreased urine osmolality

decreased urine pH ( J:242593 )

• urinary pH is reduced in 8 week old mice, with a 1.5-fold and 2.5-fold increases in urinary H+ ion concentrations in males and females, respectively

• urinary pH is also reduced in 6 month old mice

decreased urine protein level ( J:242593 )

• 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 4.8-fold

• 24 hour uric acid excretion is also decreased by about 1.6-fold in 8 week old males

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

kidney inflammation ( J:242593 )

• kidneys show small areas of interstitial infiltrates, consisting of T-cells and macrophages, at 8 weeks of age

• kidneys have multiple, large areas of interstitial infiltrates, mainly in the medullary region, at 6 months of age

glomerulosclerosis ( J:242593 )

• some glomeruli show increased fibrotic material at 6 months, indicative of glomerulosclerosis

• however, no kidney cysts are seen

renal interstitial fibrosis ( J:242593 )

• 8 week old kidneys show some intracellular fibrous deposits

• 6 month old kidneys have large areas of fibrosis, with some renal tubules detaching form the basement membrane

abnormal renal tubule morphology ( J:242593 )

• some renal tubules detach from the basement membrane due to large areas of fibrosis at 6 months

kidney failure ( J:242593 )

polyuria ( J:242593 )

• mice excrete approximately 2-4-fold increased volumes of urine, corrected for body weight

Genotype
MGI:6160896

ht2

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

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