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Gene: Slc12a3 MGI:108114

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 12, member 3
Synonyms:
NCC,  TSC

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc12a3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc12a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Palpitations, Hypocalciuria, Polyuria, Nocturia, Hypotension, Increa... OMIM:263800
Gitelman Syndrome
Proteinuria, Renal potassium wasting, Prolonged QT interval, Abnormal T-wave, Renal tubular acido... ORPHA:358

The table below shows human diseases predicted to be associated to Slc12a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Increased circula... OMIM:607364
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Renal so... OMIM:612780
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Palpitations, Hypocalciuria, Polyuria, Nocturia, Hypotension, Increa... OMIM:263800
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... OMIM:613845
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia OMIM:617671
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia OMIM:239199
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Sudden c... ORPHA:73224
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hypercalciuria, Hyperphosphatemia, Hyperma... ORPHA:428
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:601678
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Atrial fibrilla... OMIM:223360
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Hypotension, Urinary incontinence OMIM:156310
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level, Polyuria, Hypercalciuria, Hypertension OMIM:613677
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria OMIM:602722
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Urinary incontinence, Tachycardia, Pulmonary embolism, Arrhythmia, ... ORPHA:94093
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... ORPHA:1031
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... OMIM:241200
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... OMIM:619743
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Myoglobinuria, Hypotension, Hype... OMIM:145600
Gitelman Syndrome
Proteinuria, Renal potassium wasting, Prolonged QT interval, Abnormal T-wave, Renal tubular acido... ORPHA:358
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Familial Hyperaldosteronism Type Iii
Hypokalemia, Intracranial hemorrhage, Hypercalciuria, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hematochezia, Renal dysplasia, Hypertriglyceridemia, Hypo... OMIM:618183
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal sal... OMIM:610600
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Palpitations, Decreased urinary... ORPHA:79102
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Renal sodi... ORPHA:556037
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis OMIM:614732
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... ORPHA:157215
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hematochezia OMIM:175500
Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy... ORPHA:437
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Cystinosis, Nephropathic
Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Hyponatremia... OMIM:219800
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Renal sodi... ORPHA:556030
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Proximal renal tubular acidosis, Hypotension, Increased cir... ORPHA:427
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting OMIM:264350
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Intracranial hemorrhage, Phosphoethanolaminuria, Hypercalciuria, H... OMIM:241500
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... ORPHA:2088
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis, Hyperphosph... OMIM:239200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias, Renal salt wasting OMIM:201910
Primary Hyperoxaluria
Intermittent claudication, Chronic kidney disease, Raynaud phenomenon, Calcium oxalate nephrolith... ORPHA:416
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Proximal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hypovolemia, Hyperuricosuria, Glycosuria, Global pro... ORPHA:47159
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H... OMIM:241530
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Glycosuria, Renal cy... ORPHA:699
Oculoskeletodental Syndrome
Hypocalcemia, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Lacunar stroke OMIM:618440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Decreased prealbumin level, Membranous nephropa... ORPHA:37042
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Distal Renal Tubular Acidosis
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... ORPHA:18
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... ORPHA:411634
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis OMIM:156400
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Hypotension, ... ORPHA:85445
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein... OMIM:171420
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormal urine sodium concentration, Renal insuff... ORPHA:320
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Increased urinary potassium, Pal... ORPHA:231625
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Renal insufficiency, Hyperuricemia, Hypermagnesemia ORPHA:469
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Mitral regurgitation, Hypophosphaturia, Hypocalciuria, Tricuspid regurgitation ORPHA:73223
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Increased urinary potassium, Palpitations, Hypert... ORPHA:231580
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyperuricemia, Increased... OMIM:239000
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Nephrocalcinosis, ... ORPHA:99880
Parathyroid Carcinoma
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Nephrocalcinosis, ... ORPHA:143
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hypotension, Increased circulating renin level OMIM:177735
Hydroxykynureninuria
Tachycardia, Renal tubular acidosis, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Hypertension associated with pheochromocytoma, Elevated urinary vanillylmandelic... ORPHA:653
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Tachyca... ORPHA:91547
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... OMIM:227810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fract... ORPHA:542323
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypote... ORPHA:173
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Acute kidney injury, Hypertension ORPHA:330021
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Tachycardia, Hematuria, Hypotension, Shock, Renal insuff... ORPHA:31826
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... ORPHA:84081
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Myocardial ... ORPHA:95409
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Restrictive cardiomyopathy, Abnormality of the urinary system, Hypercalciu... ORPHA:369837
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Hypotension, Hypernatriuria, Hyponatremia, Hypertrophic cardi... ORPHA:361
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Hypotension, Myocarditis, Oliguria, Renal insuffici... ORPHA:188
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Legionnaires Disease
Arrhythmia, Hematuria, Hypotension, Myocarditis, Proteinuria, Hyponatremia, Renal insufficiency, ... ORPHA:549
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Urinary urgency, Portal hype... OMIM:619503
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Perry Syndrome
Hypotension ORPHA:178509
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypoammonemia,... ORPHA:534
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Hypotension, Gastrointestinal hemorrhage, Epistaxis ORPHA:99828
Meningococcal Meningitis
Shock, Elevated circulating C-reactive protein concentration, Renal insufficiency, Hypotension ORPHA:33475
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, 3-Methylglutaric aciduria, Hypercalciuria, Complex organic aciduria, Renal Fa... OMIM:557000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hypotension, Increased circulating renin level, Penoscrotal hypospadias, Hyponatremi... ORPHA:90791
Nipah Virus Disease
Hypotension ORPHA:99825
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level, Intracranial hemorrhage, Increased urinary 11-deo... ORPHA:90795
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Low-molecula... ORPHA:411629
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:352540
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Tachycardia, Elevated circulating creatine kinase concentration, Recurrent urinary ... ORPHA:36234
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:168558
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Scrub Typhus
Hypotension, Renal insufficiency, Myocarditis ORPHA:83317
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Increased circulating renin level, Myocardial inf... ORPHA:90041
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Hypovolemia, Abnormal urine potassium concentrati... ORPHA:289548
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Leprechaunism
Hypokalemia, Increased circulating renin level, Enlarged kidney, Long penis, Hypercalciuria, Hype... ORPHA:508
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Adult Acute Respiratory Distress Syndrome
Vasculitis, Shock, Hypotension ORPHA:70578
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... ORPHA:100080
Lysosomal Acid Lipase Deficiency
Hypovolemia, Abnormal urine potassium concentration, Hypotension, Hypertriglyceridemia, Hypernatr... ORPHA:275761
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated circulati... ORPHA:466650
Williams Syndrome
Sudden cardiac death, Myocardial infarction, Proteinuria, Nephrolithiasis, Bladder diverticulum, ... ORPHA:904
Addison Disease
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:85138
Necrotizing Enterocolitis
Hyponatremia, Shock, Hypotension, Bradycardia ORPHA:391673
Mastocytosis
Telangiectasia of the skin, Arrhythmia, Hypotension, Hypercalcemia, Gastrointestinal hemorrhage ORPHA:98292
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension OMIM:263400
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Hypotension, Hyperuricemia, Hypertension ORPHA:134
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100082
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... OMIM:220110
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Williams-Beuren Syndrome
Bladder diverticulum, Micropenis, Pulmonic stenosis, Mitral regurgitation, Enuresis, Recurrent ur... OMIM:194050
Serotonin Syndrome
Hypertension, Tachycardia, Acute kidney injury, Hypotension ORPHA:43116
Whipple Disease
Hypotension, Myocarditis, Myocardial infarction, Hyponatremia, Gastrointestinal hemorrhage, Peric... ORPHA:3452
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Sarcoidosis
Nephrolithiasis, Arrhythmia, Hypercalciuria, Tubulointerstitial nephritis, Ventricular tachycardi... ORPHA:797
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Congenital megaureter, Elevated alpha-fetoprotein, Nephroblastoma, Ureteral dupl... ORPHA:116
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Melena, Hematemesis, Hypercalciuria, Hypercalcemia, Hypertension, Shortened QT i... ORPHA:652
Congenital Hypothyroidism
Nephrolithiasis, Hypertension, Arrhythmia, Hypotension ORPHA:442
Congenital Enterovirus Infection
Hyperammonemia, Hypotension, Myocarditis, Hypoalbuminemia, Cardiomyopathy ORPHA:292
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... ORPHA:97287
Hellp Syndrome
Cerebral hemorrhage, Hemoglobinuria, Hypotension, Proteinuria, Internal hemorrhage, Acute kidney ... ORPHA:244242
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Hypotension, Myocarditis, Oliguria, Shock,... ORPHA:319213
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypotension ORPHA:439822
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, 3-Methylglutaric aciduria, Hyperammonemia, Hypotension, Dilated cardiomyopathy, Hyperu... ORPHA:20
Staphylococcal Necrotizing Pneumonia
Shock, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:36238
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Microscopic nephrocalcinosis, Hypercalciuria OMIM:219721
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Reversible renal... ORPHA:90051
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hyponatremia, Hyperuricemia, Hypercalcemia ORPHA:199299
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Hematuria, Myocarditis, Proteinuria, Bun... ORPHA:99827
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Hypovolemia, Hyperkalemia, Hypotension, Long penis, Hypernatriuria, Sho... ORPHA:90794
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Osteogenesis Imperfecta
Nephrolithiasis, Aortic regurgitation, Cerebral hemorrhage, Hypercalciuria ORPHA:666
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney OMIM:163200
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Pollakisuria, Urinary bladder sphincter dysfunction, Hypotension ORPHA:93256
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Hypovolemia, Tachycardia, Elevated circulating creatine kinase conce... ORPHA:99826
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hypokalemia, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Internal hem... ORPHA:88673
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Hypercalciuria OMIM:181000
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Leptospirosis
Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal hemorrhage, Hypotension, Acute kidney... ORPHA:509
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hypotension ORPHA:293978
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Renal tubular dysfunction ORPHA:562
Poliomyelitis
Hypertension, Hypotension, Hypovolemic shock ORPHA:2912
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Hypotension ORPHA:2135
Cystic Fibrosis
Hypercalciuria OMIM:219700
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... OMIM:309000
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Hypokalemia, Palpitations, Ventricular arrhythmia, Hypotension, Hype... ORPHA:91347
Alexander Disease
Hypertension, Sudden cardiac death, Hypotension ORPHA:58
Cranioectodermal Dysplasia 1
Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... OMIM:218330
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Prolactinoma
Hypotension ORPHA:2965
Acute Liver Failure
Hyperammonemia, Intracranial hemorrhage, Hypotension, Shock, Acute kidney injury, Gastrointestina... ORPHA:90062
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur ORPHA:100079
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Weak pulse, Hype... ORPHA:51608
Plague
Tachycardia, Arrhythmia, Hematemesis, Hypotension ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc12a3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc12a3.

No publications found that use IMPC mice or data for Slc12a3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc12a3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc12a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc12a3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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