Mouse Genome Informatics
hm1
    Nphs1tm1Ktry/Nphs1tm1Ktry
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:66970)

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