About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nphs1tm1Ktry
targeted mutation 1, Karl Tryggvason
MGI:2386182
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nphs1tm1Ktry/Nphs1tm1Ktry involves: 129X1/SvJ * C57BL/6 MGI:3613052


Genotype
MGI:3613052
hm1
Allelic
Composition
Nphs1tm1Ktry/Nphs1tm1Ktry
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs1tm1Ktry mutation (0 available); any Nphs1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are born alive at the expected frequency (25%) and start suckling but die within 24 hrs after birth

renal/urinary system
• newborn homozygotes display massive non-selective proteinuria
• 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
• mutant kidneys display an enlarged Bowman's space
• mutant podocyte foot processes are abnormally low in number and in closer apposition
• mutant glomeruli exhibit partial effacement of podocyte foot processes
• cellular junctions devoid of slit diaphragms
• mutant kidneys display mesangial cell hypercellularity
• newborn homozygotes exhibit microcysts in the kidney cortex
• newborn homozygotes exhibit microcysts in the kidney medulla
• 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
• newborn homozygotes exhibit dilated distal renal tubules
• newborn homozygotes exhibit dilated proximal renal tubules

homeostasis/metabolism
• homozygotes become edemic soon after birth
• newborn homozygotes display massive non-selective proteinuria
• 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
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

Mouse Models of Human Disease
OMIM ID Ref(s)
Nephrotic Syndrome, Type 1; NPHS1 256300 J:66970





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory