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Phenotypes Associated with This Genotype
Genotype
MGI:2678505
Allelic
Composition
Nphs1Gt(pT1Betageo)1Ruiz/Nphs1Gt(pT1Betageo)1Ruiz
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs1Gt(pT1Betageo)1Ruiz mutation (0 available); any Nphs1 mutation (51 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
nephrotic syndrome DOID:1184 J:86048


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
10/08/2019
MGI 6.14
The Jackson Laboratory