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Phenotypes Associated with This Genotype
Genotype
MGI:5142307
Allelic
Composition
Itgb1tm1Efu/Itgb1tm1Efu
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgb1tm1Efu mutation (2 available); any Itgb1 mutation (60 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 10% of mice survived to 6 weeks of age
• 90% of mice were euthanized at 4-5 weeks of age due to end stage renal failure and nephrotic syndrome

behavior/neurological
• mice become less physically active at 3 weeks of age

growth/size/body
• at 6 weeks of age, mice are smaller than control littermates

homeostasis/metabolism
• mice develop severe edema at 3 weeks of age
• mice develop severe proteinuria by 6 weeks of age
• albuminuria is already evident at P1
• marked albuminuria is noted at 6 weeks of age

renal/urinary system
• a significant increase in podocyte apoptosis is detected at P10 and P21 by TUNEL analysis
• at P21, mice exhibit about one-third of the podocyte number found in control littermates, as quantified in EM sections
• mice develop severe proteinuria by 6 weeks of age
• albuminuria is already evident at P1
• marked albuminuria is noted at 6 weeks of age
• mice develop end stage kidney disease with pathological changes in the glomeruli and tubulo-interstitium
• at 6 weeks of age, many Bowmans capsules are either empty or contain partially degenerated glomeruli
• foot process effacement is first noted at E15.5
• extensive foot process effacement is noted at P10 and progresses by P21
• early segmental splitting of the glomerular basement membrane (GBM) is first noted at P10 and progresses by P21
• however, normal GBM morphogenesis is noted at E15.5 and at P1
• at P21, mice exhibit degeneration of the capillary loops and mesangium with little glomerulosclerosis
• at 6 weeks of age, mice exhibit dilated glomerular capillaries and glomerular disintegration
• by P21, mice exhibit degeneration of the capillary loops
• however, normal glomerular capillary morphogenesis is noted at E15.5 and at P1
• at P10, some glomeruli display segmentally "ballooned" capillary lumens; more "ballooned" capillary loops are noted at 3 weeks of age
• at 6 weeks of age, mice exhibit dilated glomerular capillaries
• mesangium hypercellularity is observed by 3 weeks of age
• increased mesangial matrix with focal defects is noted at 3 weeks, indicating mesangial injury
• multiple cytoplasmic vacuoles are first noted in mesangial cells at P10
• by P21, mice exhibit degeneration of the mesangium with little glomerulosclerosis
• at P10, mice exhibit multiple cytoplasmic vacuoles within the tubular epithelial cells
• flattened epithelial cells with extensive proteinaceous tubular casts are noted at 6 weeks of age
• at 6 weeks of age, end stage kidneys are smaller than those of age-matched control mice
• dilated renal tubules containing hyaline material are observed at 6 weeks of age
• tubular dilatation is first evident at P10 and increased by 3 weeks of age
• extensive proteinaceous tubular casts are noted at 6 weeks of age
• at 6 weeks of age, end stage kidneys are paler than those of age-matched control mice

cardiovascular system
• by P21, mice exhibit degeneration of the capillary loops
• however, normal glomerular capillary morphogenesis is noted at E15.5 and at P1
• at P10, some glomeruli display segmentally "ballooned" capillary lumens; more "ballooned" capillary loops are noted at 3 weeks of age
• at 6 weeks of age, mice exhibit dilated glomerular capillaries

cellular
• mesangium hypercellularity is observed by 3 weeks of age
• a significant increase in podocyte apoptosis is detected at P10 and P21 by TUNEL analysis
• at P21, mice exhibit about one-third of the podocyte number found in control littermates, as quantified in EM sections


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory