Phenotypes associated with this allele

• Allele Symbol: urehr1
• Allele Name: urea phenotype 1
• Allele ID: MGI:3712281
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	urehr1/urehr1	C3HeB/FeJ-urehr1	MGI:3712573

Genotype
MGI:3712573

hm1

• Allelic Composition: urehr1/urehr1
• Genetic Background: C3HeB/FeJ-urehr1

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

mortality/aging

premature death ( J:121470 )

• phenotypic mutant mice commonly die at 5 months of age

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 relative to controls

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

albuminuria ( J:121470 )

• phenotypic mutants show severe albuminuria

abnormal kidney morphology ( J:121470 )

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

• no phenotypic alterations are seen in lungs, liver, spleen, salivary gland, stomach or intestine of phenotypic mutants

abnormal kidney arterial blood vessel morphology ( J:121470 )

• larger intrarenal arterial vessels show intimal thickening and media hypertrophy

abnormal podocyte morphology ( J:121470 )

• podocyte changes include pseudocyst formation, protrusions of the epithelial surface, and foot process effacement

podocyte foot process effacement ( J:121470 )

podocyte microvillus transformation ( J:121470 )

• protrusions of the epithelial surface

abnormal renal glomerulus basement membrane morphology ( J:121470 )

• double-contour formation of the glomerular basement membrane is frequently observed

abnormal renal glomerulus morphology ( J:121470 )

• 3 month-old phenotypic mutants display diffuse glomerular lesions with large variation among glomeruli

• less damaged glomeruli may show glomerular hypertrophy and segmental to global mesangiolysis with widened and reticulated mesangial areas

• other glomerular lesions like extravasation into mesangial compartment, glomerular obsolescence, hyalinosis, and sclerosis with segmental to circumferential synechiae between glomerular tuft and Bowman's capsule are also observed

• glomerular capillary widening by subendothelial accumulation of lucent, finely granular material is observed

abnormal glomerular capillary morphology ( J:121470 )

• capillary walls are thickened, to many times original width in some cases, with accumulation of material (pale-staining) beneath endothelium leading to obliteration of lumina

abnormal glomerular capillary endothelium morphology ( J:121470 )

• endothelial cell swelling may be observed

dilated glomerular capillary ( J:121470 )

• glomerular capillary widening by subendothelial accumulation of lucent, finely granular material is observed

mesangial cell interposition ( J:121470 )

• mesangial cell interposition into widened subendothelial space is frequently observed

mesangiolysis ( J:121470 )

• less damaged glomeruli may display segmental to global mesangiolysis

glomerulosclerosis ( J:121470 )

• hyalinosis and glomerulosclerotic changes may be observed

renal glomerular immunoglobulin deposits ( J:121470 )

• positive staining of IgA, IgM, and C1q in glomeruli is observed

renal glomerular synechia ( J:121470 )

• segmental to circumferential synechiae between the glomerular tuft and Bowman's capsule are observed

renal glomerulus hypertrophy ( J:121470 )

• seen in less damaged glomeruli

renal tubule atrophy ( J:121470 )

• tubular atrophy is observed

renal cast ( J:121470 )

• hyaline droplets in proximal tubular epithelia and proteinaceous casts in distal tubules are observed

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 relative to controls

increased blood urea nitrogen level ( J:121470 )

• mice have pathological plasma urea levels with 58% penetrance (phenotypic mutants) when analyzed at 3 months (2 measurements >70 mg/dl within 3-week period) compared to controls; plasma urea retention phenotype penetrance increases with age

decreased circulating glucose level ( J:121470 )

• reduced plasma glucose is observed in phenotypic mutants

increased circulating cholesterol level ( J:121470 )

• hypercholesterolemia is observed, linked to plasma urea retention in this line; complete penetrance of phenotype by 12 weeks of age

abnormal glomerular capillary thrombosis ( J:121470 )

• occasionally, capillaries contain microthrombi

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

albuminuria ( J:121470 )

• phenotypic mutants show severe albuminuria

behavior/neurological

increased fluid intake ( J:121470 )

• phenotypic mutants show increased water intake in metabolism cages

cardiovascular system

aortic hypertrophy ( J:121470 )

• in some phenotypic mutants, ascending aorta appeared thickened and show inflammatory infiltration of vascular wall

abnormal kidney arterial blood vessel morphology ( J:121470 )

• larger intrarenal arterial vessels show intimal thickening and media hypertrophy

abnormal glomerular capillary morphology ( J:121470 )

• capillary walls are thickened, to many times original width in some cases, with accumulation of material (pale-staining) beneath endothelium leading to obliteration of lumina

abnormal glomerular capillary endothelium morphology ( J:121470 )

• endothelial cell swelling may be observed

dilated glomerular capillary ( J:121470 )

• glomerular capillary widening by subendothelial accumulation of lucent, finely granular material is observed

cellular

mesangial cell interposition ( J:121470 )

• mesangial cell interposition into widened subendothelial space is frequently observed