Phenotypes associated with this allele

• Allele Symbol: Nphs1^tm1Rkl
• Allele Name: targeted mutation 1, Raghu Kalluri
• Allele ID: MGI:2386960
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nphs1^tm1Rkl/Nphs1^tm1Rkl	involves: 129S2/SvPasCrl	MGI:3587727
cx2	Magi1^tm1Itl/Magi1^tm1Itl Nphs1^tm1Rkl/Nphs1^+	involves: 129/Sv * C57BL/6	MGI:6379273

Genotype
MGI:3587727

hm1

• Allelic Composition: Nphs1^tm1Rkl/Nphs1^tm1Rkl
• Genetic Background: involves: 129S2/SvPasCrl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:78616 )

• homozygous mutant mice die at 2 days of age

renal/urinary system

increased urine protein level ( J:78616 )

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

increased glomerular capsule space ( J:78616 )

• histological examination reveals enlargement of Bowman's space

absent podocyte slit diaphragm ( J:78616 )

• electronglomerular epithelial slit diaphragms (GESD) are absent

dilated renal tubule ( J:78616 )

homeostasis/metabolism

increased urine protein level ( J:78616 )

• 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: Magi1^tm1Itl/Magi1^tm1Itl; Nphs1^tm1Rkl/Nphs1⁺
• Genetic Background: involves: 129/Sv * C57BL/6

homeostasis/metabolism

increased urine protein level ( J:237632 )

• At approximately 1 year of age

renal/urinary system

increased urine protein level ( J:237632 )

• At approximately 1 year of age

abnormal podocyte morphology ( J:237632 )

• glomeruli affected showed podocyte swelling

abnormal podocyte slit diaphragm morphology ( J:237632 )

• glomeruli affected showed severe podocyte effacement by electron microscopy analyses

decreased podocyte number ( J:237632 )

• glomeruli affected showed podocyte loss

glomerulosclerosis ( J:237632 )

• 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