Phenotypes associated with this allele

• Allele Symbol: Nphs1^tm1Ktry
• Allele Name: targeted mutation 1, Karl Tryggvason
• Allele ID: MGI:2386182
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nphs1^tm1Ktry/Nphs1^tm1Ktry	involves: 129X1/SvJ * C57BL/6	MGI:3613052

Genotype
MGI:3613052

hm1

• Allelic Composition: Nphs1^tm1Ktry/Nphs1^tm1Ktry
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:66970 )

• homozygotes are born alive at the expected frequency (25%) and start suckling but die within 24 hrs after birth

renal/urinary system

increased mesangial cell number ( J:66970 )

• mutant kidneys display mesangial cell hypercellularity

kidney cortex cyst ( J:66970 )

• newborn homozygotes exhibit microcysts in the kidney cortex

kidney medulla cyst ( J:66970 )

• newborn homozygotes exhibit microcysts in the kidney medulla

enlarged kidney ( J:66970 )

increased kidney weight ( J:66970 )

• 24-hr-old homozygotes exhibit a 12% increase in kidney weight relative to wild-type pups; no differences in kidney weight are noted at birth

increased urine protein level ( J:66970 )

• newborn homozygotes display massive non-selective proteinuria

albuminuria ( J:66970 )

• most of the proteins in the urine of mutant mice are of the size of albumin and smaller proteins; however, some proteins larger than albumin are also detected

increased glomerular capsule space ( J:66970 )

• mutant kidneys display an enlarged Bowman's space

abnormal podocyte foot process morphology ( J:66970 )

• mutant podocyte foot processes are abnormally low in number and in closer apposition

podocyte foot process effacement ( J:66970 )

• mutant glomeruli exhibit partial effacement of podocyte foot processes

absent podocyte slit diaphragm ( J:66970 )

• cellular junctions devoid of slit diaphragms

dilated distal convoluted tubule ( J:66970 )

• newborn homozygotes exhibit dilated distal renal tubules

dilated proximal convoluted tubule ( J:66970 )

• newborn homozygotes exhibit dilated proximal renal tubules

homeostasis/metabolism

edema ( J:66970 )

• homozygotes become edemic soon after birth

increased urine protein level ( J:66970 )

• newborn homozygotes display massive non-selective proteinuria

albuminuria ( J:66970 )

• most of the proteins in the urine of mutant mice are of the size of albumin and smaller proteins; however, some proteins larger than albumin are also detected

nervous system

nervous system phenotype ( J:66970 )

N • newborn homozygotes display neither anatomical nor morphological abnormalities in the brain, despite significant expression in the ventricular zone of the fourth ventricle, the developing spinal cord, cerebellum, hippocampus and olfactory bulb

growth/size/body

kidney cortex cyst ( J:66970 )

• newborn homozygotes exhibit microcysts in the kidney cortex

kidney medulla cyst ( J:66970 )

• newborn homozygotes exhibit microcysts in the kidney medulla

enlarged kidney ( J:66970 )

increased kidney weight ( J:66970 )

• 24-hr-old homozygotes exhibit a 12% increase in kidney weight relative to wild-type pups; no differences in kidney weight are noted at birth

cellular

increased mesangial cell number ( J:66970 )

• mutant kidneys display mesangial cell hypercellularity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephrotic syndrome		DOID:1184		J:66970