| Lab: MDC/FMP Berlin |
| Genotype: Bsnd |
Genetic Manipulation: conditional knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| BL6 |
none |
newborn |
standard urine chemistry |
TAL |
increased sodium excretion |
severe salt loss |
- |
- |
|
|
| |
| Lab: UCL |
| Genotype: Cftr |
Genetic Manipulation: knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| 129/C57BL/6 |
none |
adult |
Beta2-microglobulin uptake |
renal proximal tubule |
- |
impaired proximal tubular endocytosis |
#219700 |
17287432 |
| 129/C57BL/6 |
none |
adult |
CC16 ELISA, immunoblotting |
renal proximal tubule |
proteinuria |
low molecular weight proteinuria syn:selective, tubular proteinuria |
#219700 |
17287432 |
|
|
| Genotype: Clcn5- |
Genetic Manipulation: knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
- |
generalized proximal tubule dysfunction, renal Fanconi syndrome |
#300009 |
11115837, 12674322, 12815097 |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
- |
impaired proximal tubular endocytosis |
- |
11115837 |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
proteinuria |
low molecular weight proteinuria syn:selective, tubular proteinuria |
- |
11115837 |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
aminoaciduria |
generalized aminoaciduria |
- |
11115837 |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
increased urine glucose level |
glycosuria |
- |
11115837 |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule |
- |
hyperphosphaturia |
- |
- |
| C57BL/6 |
none |
adult |
Biochemical urinalyses, immunoblotting |
renal proximal tubule, thick ascending limb |
hypercalciuria |
hypercalciuria |
- |
- |
| C57BL/6 |
none |
adult |
Von Kossa staining |
metanephros |
kidney calcification |
renal calcium deposits syn:nephrocalcinosis |
- |
- |
|
|
| Genotype: Pvalb -/- |
Genetic Manipulation: knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| 129/sv (will update) |
none |
9-26 weeks |
metabolic cages |
distal convoluted tubule |
polyuria |
polyuria, |
none |
none |
129/sv |
none |
9-26 weeks |
standard chemistry |
distal convoluted tubule |
no appropriate term |
increased kaliuresis |
none |
none |
129/sv |
none |
9-26 weeks |
RIA |
distal convoluted tubule |
no appropriate term |
increased aldosteronuria |
none |
none |
129/sv |
none |
9-26 weeks |
flame photometer |
distal convoluted tubule |
no appropriate term |
decreased lithium clearance |
none |
none |
129/sv |
none |
9-26 weeks |
water deprivation, metabolic cages, osmolality measured with osmometer |
distal convoluted tubule |
no appropriate term |
normal urine concentrating ability |
none |
none |
129/sv |
none |
9-26 weeks |
RIA |
blood |
abnormal vitamin level |
increased plasma vitamin D3 |
none |
none |
129/sv |
none |
9-26 weeks |
metabolic cages, injection of diuretics and standard chemistry |
metanephros |
no appropriate term |
impaired response to loop and thiazide diuretics |
none |
none |
129/sv |
none |
9-26 weeks |
TUNEL method, PARP detection |
metanephros |
no appropriate term |
no apoptosis |
none |
none |
129/sv |
none |
9-26 weeks |
electron microscopy |
metanephros |
no appropriate term |
or ultrastructural changes in the kidney |
none |
none |
129/sv |
none |
9-26 weeks |
pQCT scanner (in vivo) |
outwith scope |
increased bone strength |
increased bone resistance |
none |
none |
|
|
| |
| Lab: MDC Berlin |
| Genotype: Lrp2 |
Genetic Manipulation: obligate gene knockout by homologous recombination |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| C57BL6/129 |
none |
adult |
SDS-Page |
renal proximal tubule - S1, S2 |
- |
loss of endocytic activity in the renal proximal tubules |
Donnai-Barrow syndrome (not yet available) |
not confirmed |
| C57BL6/129 |
none |
adult |
standard clinical chemistry analysis |
renal proximal tubule - S1, S2 |
proteinuria |
overt low-molecular proteinuria |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
histopathology |
outwith scope |
holoprosencephaly |
holoprosencephaly |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
renal proximal tubule - S1, S2 |
abnormal retinol metabolism |
urinary excretion of vitamin A bound to retinal binding protein |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
renal proximal tubule - S1, S2 |
abnormal vitamin level |
urinary excretion of vitamin D3 metabolites bound to vitamin D binding protein |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
renal proximal tubule - S1, S2 |
abnormal vitamin level |
urinary excretion of vitamin B12 bound to transcobalamin |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
no appropriate term |
abnormal vitamin level |
plasma vitamin D deficiency |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
X-ray, bone histo-morphometric analysis |
outwith scope |
abnormal bone mineralization |
bone calcification defects |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
visual inspection |
mouse |
perinatal lethality |
perinatal lethality (5% survival rate) |
not confirmed |
not confirmed |
|
|
| Genotype: Lrp2 (kidney specific) |
Genetic Manipulation: Conditional gene knockout by homologous rcombination, Kidney-specific gene targeting by transgene Creapolipoprotein E |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| C57BL6/129 |
none |
adult |
SDS-Page |
renal proximal tubule |
- |
loss of endocytic activity in the renal proximal tubules |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
standard clinical chemistry analysis |
- |
proteinuria |
overt low-molecular proteinuria |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
- |
- |
urinary excretion of vitamin A bound to retinal binding protein |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
- |
- |
urinary excretion of vitamin D3 metabolites bound to vitamin D binding protein |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
- |
- |
urinary excretion of vitamin B12 bound to transcobalamin |
not confirmed |
not confirmed |
| C57BL6/129 |
none |
adult |
clinical chemistry |
- |
- |
plasma vitamin D deficiency |
not confirmed |
not confirmed |
|
|
| Genotype: Sorl1 |
Genetic Manipulation: obligate gene knockout by homologous recombination |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| 129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
no appropriate term |
defect in renal sodium absorption |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
hypercalciuria |
increased calcium excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
increased potassium excretion |
increased potassium excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
no appropriate term |
increased chloride excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
thirst |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
increased sodium excretion |
increased sodium excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
thirst |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
no appropriate term |
increased chloride excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
thirst |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
hypercalciuria |
increased calcium excretion |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
no appropriate term |
defect in renal chloride absorption |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
no appropriate term |
defect in renal potassium absorption |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
telemetry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
increased blood pressure |
high blood pressure |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
decreased circulating potassium level/hypokalemia |
hypokalaemia |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
standard chemistry |
thick ascending limb and collecting duct (CD) (medullary and cortical) |
increased circulating aldosterone level |
hyperaldosteronemia (primary) |
not confirmed |
not confirmed |
129/Balbc, 129/BL6 |
normal |
adult male (7-35 weeks) |
western blot, immunohistology |
outwith scope |
no appropriate term |
enhanced processing of amyloid precursor protein (APP) to amyloid in neurons in the brain |
not confirmed |
not confirmed |
|
|
| Genotype: Sort1 |
Genetic Manipulation: obligate gene knockout by homologous recombination |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| 129/Balbc |
none |
adult (7-35 weeks) |
high salt, low salt, acidosis and thirsting |
urinary system |
no abnormal phenotype detected |
no abnormal electrolyte concentrations in blood and urine |
not confirmed |
not confirmed |
129/BL6 |
none |
adult (7-35 weeks) |
high salt, low salt, acidosis and thirsting |
urinary system |
no abnormal phenotype detected |
no abnormal electrolyte concentrations in blood and urine |
not confirmed |
not confirmed |
|
|
| |
| Lab: Hopital Necker, Paris |
| Genotype: Nphs2 |
Genetic Manipulation: conditional knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| BL6/129/CD1 |
none |
week 1 |
PAS stain |
glomerular tuft |
no abnormal phenotype detected |
no obvious histologic lesions noted (glomerulus) |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 2 |
PAS stain |
visceral epithelium (syn: podocyte layer) |
abnormal podocytes |
podocyte hypertrophy |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 3 |
PAS stain |
glomerular mesangium |
abnormal mesangial cell |
increased mesangial matrix |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
PAS stain |
glomerular tuft |
glomerulosclerosis |
focal and segmental glomerulosclerosis |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
PAS stain |
visceral epithelium (syn: podocyte layer) |
abnormal podocytes |
podocyte vacuolization |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
PAS stain |
Bowman's capsule |
abnormal glomerulus |
rare crescent formation |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 6 |
PAS stain |
glomerular tuft |
glomerulosclerosis |
progression of glomerulosclerosis |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
PAS stain |
cortical renal tubule |
dilated renal tubules |
tubular dilation |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
PAS stain |
cortical renal tubule |
renal tubular necrosis |
and tubular atrophy |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 2 |
MECA-32 stain |
renal cortical capillary |
abnormal vascular regression |
no vascular defects noted except for peritubular capillary regression |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 2 |
protein gel |
N/A |
albuminuria |
onset of albuminuria between 8 and 14 days after tamoxifen induction of Cre recombinase |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 6 |
Biochemical urinalyses |
N/A |
increased blood urea nitrogen level |
elevation of serum urea at week 6 |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 6 |
Biochemical urinalyses |
N/A |
increased circulating creatinine level |
elevation of serum creatinine at week 6 |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
Biochemical urinalyses |
N/A |
increased total circulating cholesterol level |
elevation of serum cholesterol at week 4 |
600995 |
14701729 |
| BL6/129/CD1 |
none |
week 4 |
tail cuff blood pressure measurement |
N/A |
increased blood pressure |
elevation of blood pressure at week 4 |
600995 |
14701729 |
|
|
| Genotype: Nphs2 |
Genetic Manipulation: knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| FVB/129 |
none |
Day 1 |
PAS stain |
glomerular mesangium |
abnormal mesangial cell |
mesangiolysis |
600995 |
14701729 |
| 129 |
none |
Day 12 |
PAS stain |
glomerular mesangium |
abnormal mesangial cell |
resolution or improvement in mesangial lesions |
600995 |
14701729 |
| 129 |
none |
Day 12+? |
PAS stain |
glomerular tuft |
glomerulosclerosis |
accelerated development of lesions of focal and segmental glomerulosclerosis |
600995 |
14701729 |
| FVB/129 |
none |
Day 12 |
PAS stain |
cortical renal tubule |
dilated renal tubules |
tubular dilation |
600995 |
14701729 |
| FVB/129 |
none |
Day 12 |
PAS stain |
cortical renal tubule |
renal tubular necrosis |
and tubular atrophy |
600995 |
14701729 |
| FVB/129 |
none |
Day 5 |
trichrome stain |
renal proximal tubule (pathology more suitable) |
too specific |
presence of protein reabsorption droplets (may remove this description) |
600995 |
14701729 |
| FVB/129 |
none |
Day 5 |
trichrome stain |
renal cortical vasculature |
abnormal vasculature |
increased vessel fragility |
600995 |
14701729 |
| FVB/129 |
none |
Day 5 |
MECA-32 stain |
renal cortical vasculature |
abnormal vasculature |
increase in vessel number |
600995 |
14701729 |
| FVB/129 |
none |
Day 12 |
BS1 lectin stain |
renal cortical arterial system |
abnormal vasculature |
increase in vessel tortuosity |
600995 |
14701729 |
| FVB/129 |
none |
Day 12 |
MECA-32 stain |
renal cortical capillary |
abnormal vascular regression |
peritubular capillary regression |
600995 |
14701729 |
| various |
none |
various |
Biochemical urinalyses |
N/A |
abnormal postnatal growth |
Biochemistry phenotypes |
600995 |
14701729 |
|
|
| Genotype: Nphs2 |
Genetic Manipulation: knockin |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| 129/Bl6 enriched in 129 |
none |
Day 4-5 |
light microscopy |
glomerular mesangium |
abnormal mesangial cell |
mesangiolysis of glomeruli |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 4-5 |
light microscopy |
cortical renal tubule |
dilated renal tubules |
tubular dilation |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 4-5 |
light microscopy |
renal interstitium group |
kidney hemorrhage |
with interstitial haemorrhage |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 12 |
light microscopy |
renal interstitium group |
normal |
no haemorrhage |
600995 |
none |
129/Bl6 enriched in 129 |
none |
birth |
protein gel |
N/A |
proteinuria |
proteinuria (triggers tubular dilation) |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 13.8 |
measurement of life length |
mouse |
postnatal lethality |
death at 13.8 +-6.5 days |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 5 |
quantitative RT-PCR |
kidney (metanephros) |
N/A |
overexpression of Cd2ap and Nphs2 mRNA |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 4-5 |
immunofluorescence |
glomerular tuft |
N/A |
mislocalisation of podocin and nephrin in podocytes (triggers proteinuria and overexpression of Nphs2 mRNA) |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 10 |
electron microscopy |
visceral epithelium (syn: podocyte layer) |
no appropriate term |
microvillus formation |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 10 |
electron microscopy |
visceral epithelium (syn: podocyte layer) |
abnormal podocytes |
foot process effacement |
600995 |
none |
129/Bl6 enriched in 129 |
none |
Day 10 |
electron microscopy |
visceral epithelium (syn: podocyte layer) |
abnormal podocytes |
foot processes abnormally situated close together with junctions but no slit diaphragm between them |
600995 |
none |
|
|
| |
| Lab: University of Zurich |
| Genotype: Slc4a1 |
Genetic Manipulation: knockout |
| Strain |
Stress Conditions |
Developmental Stage |
Assay |
EMAP Term |
MPO Term (phenotype) |
Phenotype Description |
OMIM Reference |
Pubmed ID |
| unknown |
none |
not confirmed |
not confirmed |
pelvis |
hydronephrosis |
mild hydronephrosis |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
outwith scope |
anemia |
anemia, |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
metanephros |
no appropriate term (should be with renal calcification) |
renal iron deposits |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
mouse |
premature death/postnatal lethality |
high lethality |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
renal distal tubule |
decreased urine output/polyuria |
diuresis defect |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
renal distal tubule |
abnormal urine osmolarity |
concentration defect |
not confirmed |
not confirmed |
unknown |
none |
not confirmed |
not confirmed |
renal distal tubule |
renal tubular acidosis |
distal renal tubular acidosis |
not confirmed |
not confirmed |
|
|
