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Phenotypes Associated with This Genotype
Genotype
MGI:5446036
Allelic
Composition
Prkcitm1Rfar/Prkcitm1Rfar
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcitm1Rfar mutation (0 available); any Prkci mutation (69 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice are born healthy but die of renal failure within 4 to 5 weeks of birth
• however, mice appear normal up to 2 weeks after birth

growth/size/body
• at ~4 weeks of age, mice exhibit significant growth retardation relative to controls

renal/urinary system
• at ~4 weeks of age, mice exhibit significant proteinuria relative to controls
• at 4 weeks, nephrin expression appears reduced while the polarity protein Par3, the tight junction marker ZO-1, and the slit diaphragm molecules nephrin and podocin exhibit a significantly impaired, granular distribution along the glomerular basement membrane, unlike the linear pattern seen in wild-type controls
• at ~4 weeks of age, foot processes appear globally effaced
• at ~4 weeks of age, severe junctional abnormalities are observed
• at ~4 weeks of age, foot processes often display significant slit diaphragm displacement
• at ~4 weeks of age, mice develop segmental glomerulosclerosis
• at ~4 weeks of age, mice exhibit renal tubule dilation
• at ~4 weeks of age, mice exhibit proteinuric casts in the tubule system
• mice develop nephrotic syndrome and die of renal failure

homeostasis/metabolism
• at ~4 weeks of age, mice exhibit significant proteinuria relative to controls


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
03/18/2025
MGI 6.24
The Jackson Laboratory