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Phenotypes Associated with This Genotype
Genotype
MGI:7442509
Allelic
Composition
Srgap1tm1a(KOMP)Wtsi/Srgap1tm1a(KOMP)Wtsi
Six2tm1(tTA,tetO-EGFP/cre)Amc/Six2+
Genetic
Background
involves: 129 * C57BL/6J * C57BL/6N
Cell Lines EPD0153_3_C10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six2tm1(tTA,tetO-EGFP/cre)Amc mutation (0 available); any Six2 mutation (15 available)
Srgap1tm1a(KOMP)Wtsi mutation (1 available); any Srgap1 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• increased mesangial cell proliferation at 12 weeks of age
• podocyte detachment at 12 weeks of age
• progressive albuminuria, starting at 6 weeks after birth
• however, no increase in proteinuria is detected at birth
• TEM analysis showed pronounced widening and misconfiguration (effacement) of podocyte foot processes at 8 and 12 weeks of age
• 3D SIM microscopy showed reduced filtration slit density (FSD), indicating aberrant foot process architecture at 8 weeks of age
• SEM revealed marked simplification, reduced branching, and misconfiguration of podocyte foot processes
• marked rarefaction and loss of slit diaphragms at 12 weeks of age
• progressive podocyte loss
• mesangial sclerosis at 12 weeks of age
• mice develop a nephrotic syndrome with a late-onset focal segmental glomerulosclerosis (FSGS)-like phenotype in adulthood
• a significantly increased glomerulosclerosis score is noted at 8 and 12 weeks of age
• tubular dilation at 12 weeks of age
• formation of proteinaceous casts at 12 weeks of age
• progressive loss of filtration-barrier function, starting at 6 weeks after birth

cellular
• increased mesangial cell proliferation at 12 weeks of age
• podocyte detachment at 12 weeks of age

homeostasis/metabolism
• progressive albuminuria, starting at 6 weeks after birth
• however, no increase in proteinuria is detected at birth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
focal segmental glomerulosclerosis DOID:1312 OMIM:PS603278
J:333727


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
04/16/2024
MGI 6.23
The Jackson Laboratory