Symbol
Name
ID

Nphs1
nephrosis 1, nephrin
MGI:1859637

Phenotype annotations related to renal/urinary system

Darker colors indicate more annotations

Human Phenotypes	Proteinuria	Diffuse mesangial sclerosis	Glomerular sclerosis	Abnormal renal tubule morphology	Renal tubular atrophy	Nephrotic syndrome	Congenital nephrotic syndrome	Renal insufficiency
Disease(s) Associated with NPHS1
nephrotic syndrome type 1

Mouse Phenotypes

increased mesangial cell number

kidney cortex cyst

kidney medulla cyst

enlarged kidney

increased kidney weight

increased urine protein level

albuminuria

abnormal kidney morphology

increased glomerular capsule space

abnormal podocyte foot process morphology

fused podocyte foot processes

podocyte foot process effacement

abnormal podocyte slit junction morphology

abnormal podocyte slit diaphragm morphology

absent podocyte slit diaphragm

dilated renal glomerular capsule

abnormal renal glomerulus morphology

expanded mesangial matrix

renal glomerulus fibrosis

dilated distal convoluted tubule

dilated proximal convoluted tubule

dilated renal tubule

abnormal renal reabsorption

Availability

Mouse Genotype

Nphs1^{Gt(pT1Betageo)1Ruiz}/Nphs1^{Gt(pT1Betageo)1Ruiz}

Nphs1^tm1.1Tbh/Nphs1^tm1.1Tbh

Nphs1^tm1Ktry/Nphs1^tm1Ktry

Nphs1^tm1Rkl/Nphs1^tm1Rkl

Nphs1^{Gt(pT1Betageo)1Ruiz}/Nphs1⁺

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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