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Phenotypes Associated with This Genotype
Genotype
MGI:6160427
Allelic
Composition
Fat1tm1.1Nsib/Fat1tm1.1Nsib
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1.1Nsib mutation (0 available); any Fat1 mutation (137 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• adults develop progressive proteinuria with massive albuminuria at 40 months of age
• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls
• however, serum albumin is not different

renal/urinary system
• adults develop progressive proteinuria with massive albuminuria at 40 months of age
• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls
• however, serum albumin is not different
• adults show collapsed F-actin in podocytes
• cell junctions of effaced foot processes resemble tight junctions
• adults show widespread foot process effacement
• newborns exhibit persistence of cuboidal podocytes, wide foot processes and tight-junction-like cell junctions in lieu of slit-diaphragms
• slit-diaphragms are decreased in adults
• adults show microvillar transformation
• adults exhibit focal segmental glomerulosclerosis, with the presence of protein casts and tubulointerstitial nephropathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nephrotic syndrome DOID:1184 J:234732


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
09/22/2022
MGI 6.21
The Jackson Laboratory