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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nphs1tm1Rkl
targeted mutation 1, Raghu Kalluri
MGI:2386960
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nphs1tm1Rkl/Nphs1tm1Rkl involves: 129S2/SvPasCrl MGI:3587727
cx2
Magi1tm1Itl/Magi1tm1Itl
Nphs1tm1Rkl/Nphs1+
involves: 129/Sv * C57BL/6 MGI:6379273


Genotype
MGI:3587727
hm1
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 (70 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




Genotype
MGI:6379273
cx2
Allelic
Composition
Magi1tm1Itl/Magi1tm1Itl
Nphs1tm1Rkl/Nphs1+
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Magi1tm1Itl mutation (0 available); any Magi1 mutation (174 available)
Nphs1tm1Rkl mutation (1 available); any Nphs1 mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• At approximately 1 year of age

renal/urinary system
• At approximately 1 year of age
• glomeruli affected showed podocyte swelling
• glomeruli affected showed severe podocyte effacement by electron microscopy analyses
• glomeruli affected showed podocyte loss
• focal segmental glomerulosclerosis (FSGS) at approximately 1 year of age in 4 of 23 mice
• FSGS lesions were present in 2?8% of glomeruli in affected mice
• FSGS was of variable intensity, ranging from small focal lesions with characteristic synechia formation to more globally appearing lesions





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
03/12/2024
MGI 6.23
The Jackson Laboratory