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Phenotypes Associated with This Genotype
Genotype
MGI:3028633
Allelic
Composition
Nphs2tm1Antc/Nphs2tm1Antc
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs2tm1Antc mutation (0 available); any Nphs2 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: death occurs much later on a pure 129/Sv genetic background (postnatal day 23) than on a mixed genetic background involving 129/Sv and C57BL/6J (postnatal day 7.5) (J:87577)
• Background Sensitivity: death occurs much later on a pure 129/Sv genetic background (postnatal day 23) than on a mixed genetic background involving 129/Sv and C57BL/6J (postnatal day 7.5) (J:87577)

growth/size/body
• although indistinguishable from wild-type at birth, homozygotes quickly became growth retarded (J:87577)
• although indistinguishable from wild-type at birth, homozygotes quickly became growth retarded (J:87577)

homeostasis/metabolism
• levels significantly elevated at death (J:87577)
• levels significantly elevated at death (J:87577)
• levels significantly elevated at death (J:87577)
• levels significantly elevated at death (J:87577)
• massive proteinuria is present from birth (J:87577)
• massive proteinuria is present from birth (J:87577)
• mostly albumin (J:87577)
• mostly albumin (J:87577)

renal/urinary system
• Background Sensitivity: on a mixed genetic background, notable thickening of the arteriolar wall with several layers of alphaSMA-positive muscular cells is evident as early as day 2; in contrast, no renal arteriolar lesions are observed on a pure 129/Sv background (J:87577)
• Background Sensitivity: on a mixed genetic background, notable thickening of the arteriolar wall with several layers of alphaSMA-positive muscular cells is evident as early as day 2; in contrast, no renal arteriolar lesions are observed on a pure 129/Sv background (J:87577)
• diffuse dilatation of peritubular capillaries as early as day 2 (J:87577)
• diffuse dilatation of peritubular capillaries as early as day 2 (J:87577)
• Background Sensitivity: on a mixed genetic background, localized kidney hemorrhage (red spots) is visible at death while multiple foci of interstitial hemorrhages (primarily on the superficial cortex) are seen as early as day 2; in contrast, no hemorrhages are observed on a pure 129/Sv background (J:87577)
• Background Sensitivity: on a mixed genetic background, localized kidney hemorrhage (red spots) is visible at death while multiple foci of interstitial hemorrhages (primarily on the superficial cortex) are seen as early as day 2; in contrast, no hemorrhages are observed on a pure 129/Sv background (J:87577)
• massive proteinuria is present from birth (J:87577)
• massive proteinuria is present from birth (J:87577)
• mostly albumin (J:87577)
• mostly albumin (J:87577)
• multiple foci of interstitial hemorrhages primarily on the superficial cortex as early as day 2 (J:87577)
• multiple foci of interstitial hemorrhages primarily on the superficial cortex as early as day 2 (J:87577)
• failure of Bowman's capsule and glomerulus to adhere (J:87577)
• failure of Bowman's capsule and glomerulus to adhere (J:87577)
• hypertrophied and focally vacuolized podocytes; vacuoles stain positive for albumin (J:87577)
• hypertrophied and focally vacuolized podocytes; vacuoles stain positive for albumin (J:87577)
• foot processes are focally present but are of irregular size and shape (J:87577)
• foot processes are focally present but are of irregular size and shape (J:87577)
• extensive podocyte effacement is apparent at E16.5 in mature glomeruli and persists after birth (J:87577)
• focally associated with cytoplasmic vacuolization (J:87577)
• extensive podocyte effacement is apparent at E16.5 in mature glomeruli and persists after birth (J:87577)
• focally associated with cytoplasmic vacuolization (J:87577)
• the remaining foot process junctions lack a visible slit diaphragm (J:87577)
• the slit diaphragm is replaced by irregular adhesions between adjacent cells (J:87577)
• the remaining foot process junctions lack a visible slit diaphragm (J:87577)
• the slit diaphragm is replaced by irregular adhesions between adjacent cells (J:87577)
• hypertrophied podocytes (J:87577)
• hypertrophied podocytes (J:87577)
• extensive microvillus formation is apparent at E16.5 in mature glomeruli and persists after birth (J:87577)
• extensive microvillus formation is apparent at E16.5 in mature glomeruli and persists after birth (J:87577)
• the GBM appears to be pushed outward as a result of mesangial expansion (J:87577)
• the GBM appears to be pushed outward as a result of mesangial expansion (J:87577)
• completely sclerotic glomeruli do not adhere to the Bowman's capsule (J:87577)
• completely sclerotic glomeruli do not adhere to the Bowman's capsule (J:87577)
• progressively reduced patency of the capillary lumens (J:87577)
• progressively reduced patency of the capillary lumens (J:87577)
• endothelial cell hypertrophy as early as day 2 (J:87577)
• endothelial cell hypertrophy as early as day 2 (J:87577)
• rapid development of diffuse mesangial sclerosis first seen at day 1 and eventually involving all mature glomeruli without mesangial cell proliferation (J:87577)
• massive mesangial accumulation of extracellular matrix proteins including nidogen, type IV collagen, laminin, perlecan, and fibronectin, as shown by immunohistochemical analysis at day 6 (J:87577)
• mild mesangial sclerosis in immature glomeruli of mice surviving longer than 10 days (J:87577)
• rapid development of diffuse mesangial sclerosis first seen at day 1 and eventually involving all mature glomeruli without mesangial cell proliferation (J:87577)
• massive mesangial accumulation of extracellular matrix proteins including nidogen, type IV collagen, laminin, perlecan, and fibronectin, as shown by immunohistochemical analysis at day 6 (J:87577)
• mild mesangial sclerosis in immature glomeruli of mice surviving longer than 10 days (J:87577)
• focal mesangiolysis progressive with age (J:87577)
• focal mesangiolysis progressive with age (J:87577)
• Background Sensitivity: on a mixed background, rapid progression of massive diffuse mesangial sclerosis (DMS) is observed in the absence of focal segmental glomerulosclerosis (FSGS) lesions; in contrast, less rapidly progressive DMS and additional changes resembling a collapsing form of glomerulopathy are observed on a pure 129/Sv background (J:87577)
• Background Sensitivity: on a mixed background, rapid progression of massive diffuse mesangial sclerosis (DMS) is observed in the absence of focal segmental glomerulosclerosis (FSGS) lesions; in contrast, less rapidly progressive DMS and additional changes resembling a collapsing form of glomerulopathy are observed on a pure 129/Sv background (J:87577)
• significant enlargement of mature glomeruli due to accumulated mesangial matrix (J:87577)
• significant enlargement of mature glomeruli due to accumulated mesangial matrix (J:87577)
• vacuolization primarily of the proximal tubule epithelium (J:87577)
• vacuolization primarily of the proximal tubule epithelium (J:87577)
• proximal tubular focal dilations and vacuolized epithelium evident at day 1 (J:87577)
• proximal tubular focal dilations and vacuolized epithelium evident at day 1 (J:87577)
• presence of protein casts, primarily in proximal renal tubules evident at day 1 (J:87577)
• presence of protein casts, primarily in proximal renal tubules evident at day 1 (J:87577)
• death due to end-stage renal failure (J:87577)
• death due to end-stage renal failure (J:87577)

cardiovascular system
• Background Sensitivity: on a mixed genetic background, notable thickening of the arteriolar wall with several layers of alphaSMA-positive muscular cells is evident as early as day 2; in contrast, no renal arteriolar lesions are observed on a pure 129/Sv background (J:87577)
• Background Sensitivity: on a mixed genetic background, notable thickening of the arteriolar wall with several layers of alphaSMA-positive muscular cells is evident as early as day 2; in contrast, no renal arteriolar lesions are observed on a pure 129/Sv background (J:87577)
• progressively reduced patency of the capillary lumens (J:87577)
• progressively reduced patency of the capillary lumens (J:87577)
• endothelial cell hypertrophy as early as day 2 (J:87577)
• endothelial cell hypertrophy as early as day 2 (J:87577)
• diffuse dilatation of peritubular capillaries as early as day 2 (J:87577)
• diffuse dilatation of peritubular capillaries as early as day 2 (J:87577)
• Background Sensitivity: on a mixed genetic background, localized kidney hemorrhage (red spots) is visible at death while multiple foci of interstitial hemorrhages (primarily on the superficial cortex) are seen as early as day 2; in contrast, no hemorrhages are observed on a pure 129/Sv background (J:87577)
• Background Sensitivity: on a mixed genetic background, localized kidney hemorrhage (red spots) is visible at death while multiple foci of interstitial hemorrhages (primarily on the superficial cortex) are seen as early as day 2; in contrast, no hemorrhages are observed on a pure 129/Sv background (J:87577)

Mouse Models of Human Disease
OMIM ID Ref(s)
Nephrotic Syndrome, Type 2; NPHS2 600995 J:87577


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory