Mouse Genome Informatics
hm1
    Nphs1Gt(pT1Betageo)1Ruiz/Nphs1Gt(pT1Betageo)1Ruiz
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 13 of 14 homozygotes die shortly after birth
• one mouse survived for 7 days, but was reduced in size relative to wild-type and exhibited severe proteinuria

renal/urinary system
• severe proteinuria exhibited by a mouse that survived the perinatal period
• described as nephrotic syndrome
• 1/3 of foot processes display a flattened pattern
• greater than 90% of podocyte foot processes are fused
• observed interpodocyte junctions show tight adherence
• occasional interpodocyte junctions appear as close contact areas that lack slit diaphragms
• fibrotic glomeruli with distorted structures and cystic tubular lesions
• glomeruli exhibit hypercellularity and excessive extracellular matrix deposition
• excessive extracellular matrix deposition
• fibrotic glomeruli
• dilation of tubules

homeostasis/metabolism
• severe proteinuria exhibited by a mouse that survived the perinatal period

Mouse Models of Human Disease
OMIM IDRef(s)
Nephrotic Syndrome, Type 1; NPHS1 256300 J:86048


Mouse Genome Informatics
ht2
    Nphs1Gt(pT1Betageo)1Ruiz/Nphs1+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• approximately 33% of podocyte foot processes were fused

Mouse Models of Human Disease
OMIM IDRef(s)
Nephrotic Syndrome, Type 1; NPHS1 256300 J:86048