Nphs1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Nphs1
nephrosis 1, nephrin
MGI:1859637

29 phenotypes from 5 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Nphs1^{Gt(pT1Betageo)1Ruiz}/Nphs1⁺ involves: 129P2/OlaHsd * C57BL/6	fused podocyte foot processes	J:86048
Nphs1^{Gt(pT1Betageo)1Ruiz}/Nphs1^{Gt(pT1Betageo)1Ruiz} involves: 129P2/OlaHsd * C57BL/6	abnormal kidney morphology	J:85162
	abnormal podocyte foot process morphology	J:86048
	abnormal podocyte slit junction morphology	J:86048
	abnormal renal glomerulus morphology	J:86048
	absent podocyte slit diaphragm	J:86048
	dilated renal glomerular capsule	J:86048
	dilated renal tubule	J:86048
	expanded mesangial matrix	J:86048
	fused podocyte foot processes	J:86048
	increased urine protein level	J:86048
	neonatal lethality, incomplete penetrance	J:86048
	postnatal lethality, complete penetrance	J:86048
	renal glomerulus fibrosis	J:86048
Nphs1^tm1.1Tbh/Nphs1^tm1.1Tbh involves: C57BL/6 * CBA	abnormal podocyte foot process morphology	J:241326
	abnormal podocyte slit diaphragm morphology	J:241326
	abnormal renal reabsorption	J:241326
	increased urine protein level	J:241326
	perinatal lethality, incomplete penetrance	J:241326
	postnatal lethality, complete penetrance	J:241326
Nphs1^tm1Afrn/Nphs1⁺ involves: C57BL/6 * DBA	no abnormal phenotype detected	J:101977
Nphs1^tm1Ktry/Nphs1^tm1Ktry involves: 129X1/SvJ * C57BL/6	abnormal podocyte foot process morphology	J:66970
	absent podocyte slit diaphragm	J:66970
	albuminuria	J:66970
	dilated distal convoluted tubule	J:66970
	dilated proximal convoluted tubule	J:66970
	edema	J:66970
	enlarged kidney	J:66970
	increased glomerular capsule space	J:66970
	increased kidney weight	J:66970
	increased mesangial cell number	J:66970
	increased urine protein level	J:66970
	kidney cortex cyst	J:66970
	kidney medulla cyst	J:66970
	neonatal lethality, incomplete penetrance	J:66970
	normal nervous system phenotype	J:66970
	podocyte foot process effacement	J:66970
Nphs1^tm1Rkl/Nphs1^tm1Rkl involves: 129S2/SvPasCrl	absent podocyte slit diaphragm	J:78616
	dilated renal tubule	J:78616
	increased glomerular capsule space	J:78616
	increased urine protein level	J:78616
	postnatal lethality, complete penetrance	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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