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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(NPHS2-cre)295Lbh
transgene insertion 295, Lawrence B Holzman
MGI:2450359
Summary 22 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Myh9tm1.1Gac/Myh9tm1.1Gac
Tg(NPHS2-cre)295Lbh/0
involves: 129 * C57BL/6 * SJL MGI:5432397
cn2
Cfl1tm1.1Wit/Cfl1tm1.1Wit
Tg(NPHS2-cre)295Lbh/0
involves: 129 * C57BL/6 * SJL MGI:5432555
cn3
Prkcitm1Rfar/Prkcitm1Rfar
Tg(NPHS2-cre)295Lbh/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:5446036
cn4
Agrntm1Rwb/Agrntm1Rwb
Tg(NPHS2-cre)295Lbh/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3716770
cn5
Pdss2tm1Dalg/Pdss2tm1Dalg
Tg(NPHS2-cre)295Lbh/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3805706
cn6
Lama5tm2Jhm/Lama5tm2Jhm
Tg(NPHS2-cre)295Lbh/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL MGI:5432561
cn7
Lama5tm2Jhm/Lama5tm1Jhm
Tg(NPHS2-cre)295Lbh/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL MGI:5432560
cn8
Ilktm1Star/Ilktm1Star
Tg(NPHS2-cre)295Lbh/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5432357
cn9
Scribtm1.1Geno/Scribtm1.1Geno
Tg(NPHS2-cre)295Lbh/0
involves: 129S1/SvImJ * C57BL/6 * SJL MGI:5449169
cn10
Vhltm1Jae/Vhltm1Jae
Tg(NPHS2-cre)295Lbh/?
involves: 129S4/SvJae * C57BL/6 * SJL MGI:5432351
cn11
Tcf3tm4Zhu/Tcf3tm4Zhu
Tg(NPHS2-cre)295Lbh/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL MGI:3715143
cn12
Ano1tm2Jrr/Ano1tm2Jrr
Tg(NPHS2-cre)295Lbh/0
involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:5569649
cn13
Myo1etm1Flv/Myo1etm1Flv
Tg(NPHS2-cre)295Lbh/0
involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:5445941
cn14
Myo1etm1Flv/Myo1etm1.1Flv
Tg(NPHS2-cre)295Lbh/0
involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:5445942
cn15
Lmx1btm4.1Rjo/Lmx1btm4.1Rjo
Tg(NPHS2-cre)295Lbh/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:3715141
cn16
Fat1tm1.1Atuf/Fat1+
Tg(NPHS2-cre)295Lbh/0
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL MGI:6160428
cn17
Fat1tm1.1Atuf/Fat1tm1.1Atuf
Tg(NPHS2-cre)295Lbh/0
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL MGI:6160427
cn18
Rhoatm1Jrel/Rhoatm1Jrel
Rhpn1tm1Ktry/Rhpn1tm1Ktry
Tg(NPHS2-cre)295Lbh/0
involves: 129X1/SvJ * C57BL/6 * SJL MGI:6360618
cn19
Itgb1tm1Efu/Itgb1tm1Efu
Tg(NPHS2-cre)295Lbh/0
involves: 129X1/SvJ * C57BL/6 * SJL MGI:5142307
cn20
Atp6ap2tm1.1Ics/Y
Tg(NPHS2-cre)295Lbh/0
involves: C57BL/6 * C57BL/6N * SJL MGI:5779963
cn21
Ldb1tm1Witz/Ldb1tm1Witz
Tg(NPHS2-cre)295Lbh/0
involves: C57BL/6 * SJL MGI:3715142
cn22
Itga3tm1Son/Itga3tm1Son
Tg(NPHS2-cre)295Lbh/0
Not Specified MGI:3691146


Genotype
MGI:5432397
cn1
Allelic
Composition
Myh9tm1.1Gac/Myh9tm1.1Gac
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh9tm1.1Gac mutation (3 available); any Myh9 mutation (152 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• surprisingly, mice are viable and do not develop overt chronic kidney disease up to 9 months of age
• no excessive proteinuria at 1-9 months of age relative to control mice
• normal urine albumin/creatinine ratios at 3-9 months of age relative to control mice
• at 3, 4, and 6 weeks after adriamycin injection, mice develop significantly more albuminuria than similarly-treated control mice
• after adriamycin injection, mice exhibit patches of foot process fusion, unlike similarly-treated control mice
• after adriamycin injection, mice exhibit patches of severe foot process effacement, unlike similarly-treated control mice
• after adriamycin injection, mice exhibit evidence of pseudovillous transformation, unlike similarly-treated control mice
• after adriamycin injection, mice exhibit thickening of the basement membrane in some glomerular loops, unlike similarly-treated control mice
• at 6 weeks after adriamycin injection, mice develop focal and segmental glomerulosclerosis ranging from mild segmental sclerosis to severe global sclerosis, unlike similarly-treated control mice which develop foci of mild sclerosis but no globally sclerotic glomeruli
• at 6 weeks after adriamycin injection, mice exhibit numerous proteinaceous casts, unlike similarly-treated control mice

homeostasis/metabolism
N
• no excessive proteinuria at 1-9 months of age relative to control mice
• normal urine albumin/creatinine ratios at 3-9 months of age relative to control mice
• normal serum creatinine and BUN levels at 9 months of age relative to control mice
• at 3, 4, and 6 weeks after adriamycin injection, mice develop significantly more albuminuria than similarly-treated control mice
• following injection with doxorubicin hydrochloride (adriamycin; 15 ug/g) to induce kidney podocyte injury, 9-11 month old mice develop severe proteinuria and glomerulosclerosis, unlike similarly-treated control mice

growth/size/body
N
• normal body weight at 9 months of age relative to control mice

cardiovascular system
N
• no significant difference in tail cuff blood pressure at 11-12 months of age relative to control mice




Genotype
MGI:5432555
cn2
Allelic
Composition
Cfl1tm1.1Wit/Cfl1tm1.1Wit
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfl1tm1.1Wit mutation (0 available); any Cfl1 mutation (11 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit a reduced life span with a median age at death of 9 months

homeostasis/metabolism
• significant increase in serum creatinine levels at 6 months of age, indicating renal dysfunction
• large ascites detected at 9 months of age
• mice develop persistent proteinuria by 3 months of age
• rate of proteinuria increases modestly until 6 months and accelerates more rapidly thereafter
• after induction of kidney podocyte injury by protamine sulfate (PS) perfusion, mutant foot processes exhibit a broadened and flattened morphology that is distinct from that in wild-type controls
• PS-treated mutant podocytes develop unusually long fine processes that project from primary, secondary, and tertiary processes, suggesting pseudovillous transformation
• PS-treated mutant podocytes fail to recover normal morphology following subsequent infusion of heparin sulfate, unlike wild-type controls

renal/urinary system
N
• mice exhibit no evidence of glomerular or interstitial scarring, even at 9 months of age
• mice develop persistent proteinuria by 3 months of age
• rate of proteinuria increases modestly until 6 months and accelerates more rapidly thereafter
• mice exhibit evidence of fine finger-like projections from the podocyte cell bodies and processes at 6 months of age
• foot process spreading is evident by 8 months of age
• following PS perfusion, foot processes exhibit a broadened and flattened morphology that is distinct from that in wild-type controls
• PS-treated podocytes develop unusually long fine processes that project from primary, secondary, and tertiary processes, suggesting pseudovillous transformation
• PS-treated mutant podocytes fail to recover normal morphology following subsequent infusion of heparin sulfate, unlike wild-type controls

integument
• mice exhibit a scruffed appearance at 9 months of age




Genotype
MGI:5446036
cn3
Allelic
Composition
Prkcitm1Rfar/Prkcitm1Rfar
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcitm1Rfar mutation (0 available); any Prkci mutation (54 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice are born healthy but die of renal failure within 4 to 5 weeks of birth
• however, mice appear normal up to 2 weeks after birth

growth/size/body
• at ~4 weeks of age, mice exhibit significant growth retardation relative to controls

renal/urinary system
• at ~4 weeks of age, mice exhibit significant proteinuria relative to controls
• at 4 weeks, nephrin expression appears reduced while the polarity protein Par3, the tight junction marker ZO-1, and the slit diaphragm molecules nephrin and podocin exhibit a significantly impaired, granular distribution along the glomerular basement membrane, unlike the linear pattern seen in wild-type controls
• at ~4 weeks of age, foot processes appear globally effaced
• at ~4 weeks of age, severe junctional abnormalities are observed
• at ~4 weeks of age, foot processes often display significant slit diaphragm displacement
• at ~4 weeks of age, mice develop segmental glomerulosclerosis
• at ~4 weeks of age, mice exhibit renal tubule dilation
• at ~4 weeks of age, mice exhibit proteinuric casts in the tubule system
• mice develop nephrotic syndrome and die of renal failure

homeostasis/metabolism
• at ~4 weeks of age, mice exhibit significant proteinuria relative to controls




Genotype
MGI:3716770
cn4
Allelic
Composition
Agrntm1Rwb/Agrntm1Rwb
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agrntm1Rwb mutation (1 available); any Agrn mutation (4 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• when compared to normal controls, no pathological changes are detected until at least 8 months of age
• glomerular filtration barrier is not compromised in mutants, with normal urinary protein and creatinine levels up to 10 months of age when compared to controls
• at ~4 months of age, glomerular basement membrane (GBM) abnormalities including focal thickening and epithelial protrusions of GBM material are observed in mutants
• focal thickening of the GBM is noted at ~4 months of age




Genotype
MGI:3805706
cn5
Allelic
Composition
Pdss2tm1Dalg/Pdss2tm1Dalg
Tg(NPHS2-cre)295Lbh/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdss2tm1Dalg mutation (0 available); any Pdss2 mutation (24 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• histological evidence of nephritis
• extensive interstitial infiltration

homeostasis/metabolism
• elevated plasma cholesterol

immune system
• histological evidence of nephritis




Genotype
MGI:5432561
cn6
Allelic
Composition
Lama5tm2Jhm/Lama5tm2Jhm
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5tm2Jhm mutation (0 available); any Lama5 mutation (10 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice live only a few weeks, but others show little sign of disease (nephrotic syndrome) at 8 months




Genotype
MGI:5432560
cn7
Allelic
Composition
Lama5tm2Jhm/Lama5tm1Jhm
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5tm1Jhm mutation (0 available); any Lama5 mutation (10 available)
Lama5tm2Jhm mutation (0 available); any Lama5 mutation (10 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• animals show mild proteinuria early in life (3 weeks), and progress to the nephrotic range of disease
• observed with age
• yellowing of the kidneys is observed with age
• increased thickness, a moth-eated appearance and irregular contours with frequent subepithelial outpocketings are observed at late disease stages
• observed at late stages of disease
• observed at late stages of disease

homeostasis/metabolism
• mice become edematous with age
• animals show mild proteinuria early in life (3 weeks), and progress to the nephrotic range of disease
• observed with age

immune system




Genotype
MGI:5432357
cn8
Allelic
Composition
Ilktm1Star/Ilktm1Star
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ilktm1Star mutation (1 available); any Ilk mutation (2 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only a few mice survive beyond 6 months of age
• mice exhibit a reduced life span with a median age of death at 19 weeks, and 100% mortality by 32 weeks of age (J:129244)
• mice begin to die at 10 weeks of age; most die of renal failure at ~3-4 months of age (J:129286)

growth/size/body
• significantly decreased body weight first noted at 10 weeks of age

renal/urinary system
• focal detachment from the basement membrane at 8-12 weeks of age (J:129244)
• by 10 weeks of age, podocytes are sometimes detached from the GBM and found in the lumens of dilated tubules (J:129286)
• however, no podocyte detachment is observed at 4 weeks of age (J:129286)
• marked apoptosis in the tubulointerstitial area of the kidney at 10 weeks of age, unlike in control mice
• a significant number of TUNEL+ podocytes is noted in the lumens of tubules at 10 weeks of age, suggesting that detached podocytes undergo apoptotic death
• however, no podocyte detachment or apoptosis is observed at 4 weeks of age, when albuminuria is pronounced
• selective albuminuria first detected at 2 weeks that progresses rapidly to unselective proteinuria by 4-12 weeks of age (J:129244)
• massive proteinuria at 12 weeks of age (J:129244)
• significantly increased urine total protein at 4 and 10 weeks of age (J:129286)
• selective albuminuria first seen at 2 weeks of age (J:129244)
• albuminuria precedes the development of focal segmental glomerulosclerosis lesions (J:129244)
• dramatically increased urine albumin levels are first noted at 4 weeks of age, progressing to severe albuminuria at 10 weeks of age (J:129286)
• tubulointerstitial changes with mononuclear infiltration at 12 weeks of age (J:129244)
• advanced tubulointerstitial inflammation in end-stage kidneys (J:129244)
• mild, patchy mononuclear inflammatory infiltrate in the interstitium at 10 weeks of age (J:129286)
• at 16 weeks of age, nephrotic end-stage kidneys appear yellow and display a rough surface
• occasional prominent single podocytes, predominantly in juxtamedullary glomeruli at 2-3 weeks of age (J:129244)
• prominent podocytes in juxtamedullary glomeruli with pseudocysts and vacuolization, focal microvillous transformation, and multifocal foot process effacement at 4 weeks of age (J:129244)
• advanced vacuolization, microvillous transformation, widespread foot process effacement, and focal detachment from the basement membrane at 8-12 weeks of age (J:129244)
• at 4 weeks of age, an aberrant distribution of nephrin and alpha-actinin-4 is observed, unlike in control podocytes; however, the localization of podocin and synaptopodin remains intact (J:129286)
• fused foot processes are noted at 10 weeks of age
• multifocal foot process effacement at 4 weeks of age (J:129244)
• widespread foot process effacement at 8-12 weeks of age (J:129244)
• slight podocyte foot process effacement with a narrower slit diaphragm is occasionally seen at 2 weeks of age, prior to the onset of albuminuria (J:129286)
• marked foot process effacement is noted at 4 weeks of age, and becomes severe by 10 weeks of age (J:129286)
• loss of slit diaphragm noted with progression to unselective proteinuria (J:129244)
• at 4 weeks of age, foot processes are adhered to GBM as continuous cytoplasmic processes, leading to the disappearance of the slit diaphragm (J:129286)
• a narrower slit diaphragm is occasionally found in some podocyte areas at 2 weeks of age (J:129286)
• a ~70% reduction in the number of podocytes per glomerulus is first seen at 10 weeks of age
• focal microvillous transformation at 4 weeks of age (J:129244)
• at 4 weeks of age, massive microvilli are formed on the surface of podocytes, unlike in control podocytes (J:129286)
• no alterations in key GBM components (fibronectin, laminins, and collagen IV isoforms) are observed; however, alpha3-integrins are relocalized into a granular pattern along the GBM, consistent with altered integrin-mediated matrix assembly, at 3 weeks of age (J:129244)
• at 10 weeks of age, podocyte foot processes are sometimes detached from the GBM, leading to a naked GBM on the side of the Bowman space (J:129286)
• an irregular GBM shape is also observed in some areas of the glomeruli at 4 weeks of age (J:129286)
• homogeneous thickening of the GBM at 3 weeks of age (J:129244)
• true harmonic mean GBM thickness is increased by 22.6% at 3 weeks of age (J:129244)
• diffuse and irregular thickening of the GBM with electron-lucent areas at 8-12 weeks of age (J:129244)
• increased GBM thickness is observed in some areas of the glomeruli at 4 weeks of age (J:129286)
• primary glomerular lesions first seen at 10 weeks of age
• distorted capillaries at 4 and 12 weeks of age
• occasional segmental mesangial expansion with increased matrix deposition at 4 weeks of age (J:129244)
• advanced mesangial expansion with increased matrix deposition at 12 weeks of age (J:129244)
• moderate to marked mesangial expansion at 10 weeks of age (J:129286)
• mice develop progressive focal segmental glomerulosclerosis (J:129244)
• advanced focal and segmental sclerotic lesions associated with tubulointerstitial changes at 8-16 weeks of age (J:129244)
• diffuse glomerulosclerosis in end-stage kidneys (J:129244)
• segmental glomerulosclerosis to global sclerosis at 10 weeks of age (J:129286)
• crescent formation at 12 weeks of age
• tuft adhesions to Bowman's capsule at 12 weeks of age
• enlarged glomerular size at 10 weeks of age
• at 12 and 16 weeks of age (J:129244)
• mild interstitial fibrosis at 10 weeks of age (J:129286)
• at 12 weeks of age
• extensive tubular dilation distended by proteinaceous fluid and cellular debris at 10 weeks of age
• progressive filtration barrier failure
• mice die of kidney failure (J:129244)
• age-dependent deterioration of kidney function (J:129286)

homeostasis/metabolism
• significantly increased serum creatinine levels at 10 but not at 4 weeks of age
• selective albuminuria first detected at 2 weeks that progresses rapidly to unselective proteinuria by 4-12 weeks of age (J:129244)
• massive proteinuria at 12 weeks of age (J:129244)
• significantly increased urine total protein at 4 and 10 weeks of age (J:129286)
• selective albuminuria first seen at 2 weeks of age (J:129244)
• albuminuria precedes the development of focal segmental glomerulosclerosis lesions (J:129244)
• dramatically increased urine albumin levels are first noted at 4 weeks of age, progressing to severe albuminuria at 10 weeks of age (J:129286)

immune system
• tubulointerstitial changes with mononuclear infiltration at 12 weeks of age (J:129244)
• advanced tubulointerstitial inflammation in end-stage kidneys (J:129244)
• mild, patchy mononuclear inflammatory infiltrate in the interstitium at 10 weeks of age (J:129286)

cardiovascular system
• distorted capillaries at 4 and 12 weeks of age

cellular
• focal detachment from the basement membrane at 8-12 weeks of age (J:129244)
• by 10 weeks of age, podocytes are sometimes detached from the GBM and found in the lumens of dilated tubules (J:129286)
• however, no podocyte detachment is observed at 4 weeks of age (J:129286)
• marked apoptosis in the tubulointerstitial area of the kidney at 10 weeks of age, unlike in control mice
• a significant number of TUNEL+ podocytes is noted in the lumens of tubules at 10 weeks of age, suggesting that detached podocytes undergo apoptotic death
• however, no podocyte detachment or apoptosis is observed at 4 weeks of age, when albuminuria is pronounced




Genotype
MGI:5449169
cn9
Allelic
Composition
Scribtm1.1Geno/Scribtm1.1Geno
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S1/SvImJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scribtm1.1Geno mutation (0 available); any Scrib mutation (32 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no abnormalities in renal glomerular structure or function




Genotype
MGI:5432351
cn10
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(NPHS2-cre)295Lbh/?
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(NPHS2-cre)295Lbh mutation (3 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• premature death beginning at ~6 months of age in mice with the highest levels of albuminuria (>1000 ug/ml)
• however, nonproteinuric mice survive to >1 year of age without overt health problems

renal/urinary system
N
• at P5, all mice exhibit normal comma and S-shaped nephric figures as well as normal capillary loop stage and maturing stage glomeruli relative to wild-type controls
• no changes in peritubular microvessels or larger arterioles and veins are observed
• dilated glomerular capillary lumen noted in mice with severe albuminuria as early as 4 weeks of age
• at 4 weeks of age, mice exhibit varying levels of albuminuria ranging from no detectable albumin to >1000 ug/ml in severe cases
• 54% of mice (males and females) are nonproteinuric with albumin levels ranging from 2.9 to 29.7 ug/ml, similar to those in wild-type controls
• dilated medullary collecting ducts noted in nonproteinuric mice at 4 weeks of age
• podocyte foot process broadening noted in all nonproteinuric mice at 4 weeks of age
• significant decrease in podocyte number noted in both proteinuric and nonproteinuric mice at 4 weeks of age, as shown WT1 staining
• incompletely fused or fragmented GBM noted on the subendothelial side of the capillary loop in nonproteinuric mice at 4 weeks of age
• abnormal GBM thickenings with numerous subepithelial "humps" and subendothelial matrix projections noted in nonproteinuric mice at 4 weeks of age
• at 16 weeks of age, overall GBM thickness in nonproteinuric mice increases to ~100 nm more than in wild-type controls
• ectopic deposition of collagen alpha1alpha2alpha1(IV) noted in GBM humps beneath podocytes
• mesangial hypercellularity noted in mice with severe albuminuria at 4 weeks of age
• mesangial matrix expansion noted in mice with severe albuminuria at 4 weeks of age
• slightly increased mesangial matrix noted in nonproteinuric mice at 4 weeks of age
• glomerular crescents noted in mice with severe albuminuria at 4 weeks of age
• severely fibrotic glomeruli noted in mice with massive albuminuria at 25 weeks of age
• noted in mice with severe albuminuria at 25 weeks of age
• dilated tubules containing proteinaceous casts and cellular debris noted in mice with severe albuminuria at 25 weeks of age
• occasional dilated tubules in nonproteinuric mice at 4 weeks of age
• proteinaceous casts detected in dilated tubules of mice with severe albuminuria at 25 weeks of age
• proteinaceous casts also noted in dilated medullary collecting ducts of nonproteinuric mice at 4 weeks of age
• end-stage renal failure observed in mice with the highest levels of albuminuria

homeostasis/metabolism
• at 33-41-weeks of age, increased BUN levels are noted in association with only the highest levels of albuminuria (>1000 ug/ml)
• severely nephrotic mice show a 6-fold increase in BUN levels relative to mice with lower levels of albuminuria
• edema noted in mice with the highest levels of albuminuria
• at 4 weeks of age, mice exhibit varying levels of albuminuria ranging from no detectable albumin to >1000 ug/ml in severe cases
• 54% of mice (males and females) are nonproteinuric with albumin levels ranging from 2.9 to 29.7 ug/ml, similar to those in wild-type controls

growth/size/body
• wasting noted in mice with the highest levels of albuminuria

cardiovascular system
• dilated glomerular capillary lumen noted in mice with severe albuminuria as early as 4 weeks of age




Genotype
MGI:3715143
cn11
Allelic
Composition
Tcf3tm4Zhu/Tcf3tm4Zhu
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcf3tm4Zhu mutation (2 available); any Tcf3 mutation (12 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice survive for at least 6 months without displaying any signs of renal failure, albuminuria, or structural alterations in podocytes or glomerular basement membrane




Genotype
MGI:5569649
cn12
Allelic
Composition
Ano1tm2Jrr/Ano1tm2Jrr
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ano1tm2Jrr mutation (0 available); any Ano1 mutation (5 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• mice exhibit normal glomerular filters, podocytes, numbers of reabsorption vesicles in proximal tubular epithelial cells, glomerular filtration rate and urine electrolyte excretion




Genotype
MGI:5445941
cn13
Allelic
Composition
Myo1etm1Flv/Myo1etm1Flv
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo1etm1Flv mutation (1 available); any Myo1e mutation (25 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• on a predominantly C57BL/6 background, many mice develop albuminuria by 8 weeks of age
• however, some mice that retain Myo1e expression in podocytes, as confirmed by immunostaining, do not exhibit albuminuria; a number of these maintain normal urinary protein excretion up to 6-8 months of age
• by 4 months of age, the average number of foot processes per unit length of the basement membrane is lower than that in controls
• at 2 months of age, proteinuric mice exhibit only a few areas of foot process effacement
• by 4 months of age, pronounced foot process effacement is observed, unlike in control mice
• by 4 months of age, the overall outline of the GBM appears jagged and uneven, unlike in control mice
• at 2 months of age, proteinuric mice exhibit only a few areas of GBM thickening
• by 4 months of age, average GBM thickness is increased relative to that in controls
• however, no glomerulosclerosis is seen at 4 months
• at 8 months of age, mice exhibit some sclerotic glomeruli, unlike control mice
• at 8 months of age, mice exhibit a few proteinaceous casts, unlike control mice
• however, no renal casts are seen at 4 months

homeostasis/metabolism
• on a predominantly C57BL/6 background, many mice develop albuminuria by 8 weeks of age
• however, some mice that retain Myo1e expression in podocytes, as confirmed by immunostaining, do not exhibit albuminuria; a number of these maintain normal urinary protein excretion up to 6-8 months of age




Genotype
MGI:5445942
cn14
Allelic
Composition
Myo1etm1Flv/Myo1etm1.1Flv
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myo1etm1.1Flv mutation (1 available); any Myo1e mutation (25 available)
Myo1etm1Flv mutation (1 available); any Myo1e mutation (25 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• on a predominantly C57BL/6 background, mice develop moderate albuminuria by 8 weeks of age, while control mice show no evidence of albuminuria up to 6 months of age
• however, at 2-6 months of age, mice exhibit significantly lower albumin:creatinine ratios than those observed in Myo1etm1.1Flv homozygotes
• at 7 months of age, mice exhibit some sclerotic glomeruli, unlike control mice
• at 7 months of age, mice exhibit a few proteinaceous casts, unlike control mice

homeostasis/metabolism
• on a predominantly C57BL/6 background, mice develop moderate albuminuria by 8 weeks of age, while control mice show no evidence of albuminuria up to 6 months of age
• however, at 2-6 months of age, mice exhibit significantly lower albumin:creatinine ratios than those observed in Myo1etm1.1Flv homozygotes




Genotype
MGI:3715141
cn15
Allelic
Composition
Lmx1btm4.1Rjo/Lmx1btm4.1Rjo
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmx1btm4.1Rjo mutation (1 available); any Lmx1b mutation (3 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice do not live past 14 days after birth

renal/urinary system
• severe within 5 days postnatal
• loss of podocyte foot processes is observed at 5 days, becoming more prominent by 11 days after birth
• foot process effacement is apparent by 11 days after birth
• loss of slit diaphragms between podocytes is observed by 11 days after birth
• thickening of the glomerular basement membrane is observed by 11 days after birth
• by 11 days after birth, kidneys develop a focal-segmental glomerulosclerosis
• adhesions between the glomerular tuft and Bowman's capsule are seen in kidneys at 11 days
• occasional dilated tubular profiles at 5 days of age
• occasional dilated tubules filled with an eosinophilic, probably proteinaceous material at 5 days of age
• mice die from renal failure

homeostasis/metabolism
• severe within 5 days postnatal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nail-patella syndrome DOID:9467 OMIM:161200
J:122505




Genotype
MGI:6160428
cn16
Allelic
Composition
Fat1tm1.1Atuf/Fat1+
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1.1Atuf mutation (0 available); any Fat1 mutation (3 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice develop a very mild albuminuria

renal/urinary system
• mice develop a very mild albuminuria
• mice show only mild mesangial expansion




Genotype
MGI:6160427
cn17
Allelic
Composition
Fat1tm1.1Atuf/Fat1tm1.1Atuf
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1tm1.1Atuf mutation (0 available); any Fat1 mutation (3 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• adults develop progressive proteinuria with massive albuminuria at 40 months of age
• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls
• however, serum albumin is not different

renal/urinary system
• adults develop progressive proteinuria with massive albuminuria at 40 months of age
• massive albuminuria is seen at 40 months of age, about 60-fold higher than in controls
• however, serum albumin is not different
• adults show collapsed F-actin in podocytes
• cell junctions of effaced foot processes resemble tight junctions
• adults show widespread foot process effacement
• newborns exhibit persistence of cuboidal podocytes, wide foot processes and tight-junction-like cell junctions in lieu of slit-diaphragms
• slit-diaphragms are decreased in adults
• adults show microvillar transformation
• adults exhibit focal segmental glomerulosclerosis, with the presence of protein casts and tubulointerstitial nephropathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nephrotic syndrome DOID:1184 J:234732




Genotype
MGI:6360618
cn18
Allelic
Composition
Rhoatm1Jrel/Rhoatm1Jrel
Rhpn1tm1Ktry/Rhpn1tm1Ktry
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhoatm1Jrel mutation (0 available); any Rhoa mutation (75 available)
Rhpn1tm1Ktry mutation (0 available); any Rhpn1 mutation (0 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• reduced body weight by 3 months of age

homeostasis/metabolism

renal/urinary system
• mice exhibit a more severe kidney injury than single Rhpn1 homozygotes
• complete podocyte effacement
• segmental and global focal segmental glomerulosclerosis
• protein casts




Genotype
MGI:5142307
cn19
Allelic
Composition
Itgb1tm1Efu/Itgb1tm1Efu
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgb1tm1Efu mutation (2 available); any Itgb1 mutation (13 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 10% of mice survived to 6 weeks of age
• 90% of mice were euthanized at 4-5 weeks of age due to end stage renal failure and nephrotic syndrome

behavior/neurological
• mice become less physically active at 3 weeks of age

growth/size/body
• at 6 weeks of age, mice are smaller than control littermates

homeostasis/metabolism
• mice develop severe edema at 3 weeks of age
• mice develop severe proteinuria by 6 weeks of age
• albuminuria is already evident at P1
• marked albuminuria is noted at 6 weeks of age

renal/urinary system
• a significant increase in podocyte apoptosis is detected at P10 and P21 by TUNEL analysis
• at P21, mice exhibit about one-third of the podocyte number found in control littermates, as quantified in EM sections
• mice develop severe proteinuria by 6 weeks of age
• albuminuria is already evident at P1
• marked albuminuria is noted at 6 weeks of age
• mice develop end stage kidney disease with pathological changes in the glomeruli and tubulo-interstitium
• at 6 weeks of age, many Bowmans capsules are either empty or contain partially degenerated glomeruli
• foot process effacement is first noted at E15.5
• extensive foot process effacement is noted at P10 and progresses by P21
• early segmental splitting of the glomerular basement membrane (GBM) is first noted at P10 and progresses by P21
• however, normal GBM morphogenesis is noted at E15.5 and at P1
• at P21, mice exhibit degeneration of the capillary loops and mesangium with little glomerulosclerosis
• at 6 weeks of age, mice exhibit dilated glomerular capillaries and glomerular disintegration
• by P21, mice exhibit degeneration of the capillary loops
• however, normal glomerular capillary morphogenesis is noted at E15.5 and at P1
• at P10, some glomeruli display segmentally "ballooned" capillary lumens; more "ballooned" capillary loops are noted at 3 weeks of age
• at 6 weeks of age, mice exhibit dilated glomerular capillaries
• mesangium hypercellularity is observed by 3 weeks of age
• increased mesangial matrix with focal defects is noted at 3 weeks, indicating mesangial injury
• multiple cytoplasmic vacuoles are first noted in mesangial cells at P10
• by P21, mice exhibit degeneration of the mesangium with little glomerulosclerosis
• at P10, mice exhibit multiple cytoplasmic vacuoles within the tubular epithelial cells
• flattened epithelial cells with extensive proteinaceous tubular casts are noted at 6 weeks of age
• at 6 weeks of age, end stage kidneys are smaller than those of age-matched control mice
• dilated renal tubules containing hyaline material are observed at 6 weeks of age
• tubular dilatation is first evident at P10 and increased by 3 weeks of age
• extensive proteinaceous tubular casts are noted at 6 weeks of age
• at 6 weeks of age, end stage kidneys are paler than those of age-matched control mice

cardiovascular system
• by P21, mice exhibit degeneration of the capillary loops
• however, normal glomerular capillary morphogenesis is noted at E15.5 and at P1
• at P10, some glomeruli display segmentally "ballooned" capillary lumens; more "ballooned" capillary loops are noted at 3 weeks of age
• at 6 weeks of age, mice exhibit dilated glomerular capillaries

cellular
• a significant increase in podocyte apoptosis is detected at P10 and P21 by TUNEL analysis
• at P21, mice exhibit about one-third of the podocyte number found in control littermates, as quantified in EM sections




Genotype
MGI:5779963
cn20
Allelic
Composition
Atp6ap2tm1.1Ics/Y
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: C57BL/6 * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6ap2tm1.1Ics mutation (0 available); any Atp6ap2 mutation (11 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• between 2 and 3 weeks after birth

renal/urinary system
• at P2
• impaired vacuolar acidification with abnormal cytoskeleton organization and cell death
• massive protein enrichment
• protein casts in renal tubules

homeostasis/metabolism
• impaired in podocytes
• at P2

cellular
• impaired vacuolar acidification with abnormal cytoskeleton organization and cell death
• impaired in podocytes




Genotype
MGI:3715142
cn21
Allelic
Composition
Ldb1tm1Witz/Ldb1tm1Witz
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ldb1tm1Witz mutation (0 available); any Ldb1 mutation (29 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most animals die by 4 weeks of age, with a very few surviving 3 months

renal/urinary system
• by 19 days of age, endothelial cells have lifted off the glomerular basement membrane
• by 19 days of age, endothelial fenestrations are largely absent
• at 19 days, pronounced proteinuria is observed
• gradual loss of foot processes is seen
• occasional foot process effacement can be seen at 5 days and becomes widespread by 19 days of age
• a split glomerular basement membrane is observed at 5 days
• by 19 days of age, adhesions to Bowman's capsule are observed
• at 19 days of age, glomeruli appear atrophied
• dilated tubules containing proteinaceous material are seen at 19 days
• frequent dilated tubular profiles filled with an eosinophilic material are seen at 19 days

homeostasis/metabolism
• at 19 days, pronounced proteinuria is observed

cardiovascular system
• by 19 days of age, endothelial cells have lifted off the glomerular basement membrane
• by 19 days of age, endothelial fenestrations are largely absent

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nail-patella syndrome DOID:9467 OMIM:161200
J:122505




Genotype
MGI:3691146
cn22
Allelic
Composition
Itga3tm1Son/Itga3tm1Son
Tg(NPHS2-cre)295Lbh/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga3tm1Son mutation (0 available); any Itga3 mutation (12 available)
Tg(NPHS2-cre)295Lbh mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Glomerular basement membrane abnormalities and foot process effacement in kidneys of mildly affected Cd151tm1Nki/Cd151tm1Nki and Itga3tm1Son/Itga3tm1Son Tg(NPHS2-cre)295Lbh/0 mice

renal/urinary system
• exhibit massive proteinuria starting within the first week of age
• complete effacement of podocyte foot processes in newborns
• glomerular basement membrane (GBM) is disorganized
• 6 week old mutants show widespread lamination and protrusions of the GBM
• abnormally thickened GBM with protrusions throughout the glomerulus
• kidneys contain partially sclerosed glomeruli
• dilated proximal tubules contain prominent protein casts
• dilated proximal tubules contain prominent protein casts
• milky, discolored kidneys

homeostasis/metabolism
• develop abdominal edema at 5-6 weeks of age
• exhibit massive proteinuria starting within the first week of age





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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory