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Phenotypes Associated with This Genotype
Genotype
MGI:3587727
Allelic
Composition
Nphs1tm1Rkl/Nphs1tm1Rkl
Genetic
Background
involves: 129S2/SvPasCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs1tm1Rkl mutation (1 available); any Nphs1 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mutant mice die at 2 days of age

renal/urinary system
• massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice
• histological examination reveals enlargement of Bowman's space
• electronglomerular epithelial slit diaphragms (GESD) are absent

homeostasis/metabolism
• massive glomerular vascular leakage (GVL) of plasma protien was demonstrated by SDS-PAGE of urine from 1 day old mutant mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nephrotic syndrome DOID:1184 J:78616


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