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Gene: Slc14a2 MGI:1351653

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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 14 (urea transporter), member 2
Synonyms:
UT-A3,  UT-A5

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 Slc14a2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc14a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Nephronophthisis 3
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... OMIM:604387
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Nocturia, Weight loss, Anorexia ORPHA:178029
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Pollakisuria ORPHA:95626
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Polyuria, Megacystis OMIM:304800
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Pulmonary arteria... OMIM:613845
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Adrenal hyperplasia, Hypercalciuria, Polyuria, Hypertension OMIM:613677
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Polydip... ORPHA:223
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Polyuria, E... OMIM:620152
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Hypercalciuria, Polyuria, Primar... OMIM:239200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ... OMIM:602522
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Portal hypertensi... ORPHA:213
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormal urine sodium conce... ORPHA:320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Polydipsia, Pal... OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Hypertension, Salt craving, Polyuria, ... OMIM:612780
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Increased bl... OMIM:612925
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Failure to thrive OMIM:560000
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... OMIM:607364
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Parathyroid hyperplasia, Polyuria, Nephrolithiasis OMIM:617994
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hypertension,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hypertension,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hypertension,... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Increased blood urea nitrogen, Hypertension,... OMIM:612924
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... OMIM:248250
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Obesity, Aggressive behavior, Hyperacti... ORPHA:3077
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:300971
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was... ORPHA:199343
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Hypercalciuria, Prolonged QT interval, Intracranial h... ORPHA:251274
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... ORPHA:567548
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul... ORPHA:18
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity,... ORPHA:8
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Hypertension ORPHA:231580
Denys-Drash Syndrome
Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot... ORPHA:220
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Polydipsia, Glycosuria, Failure to t... OMIM:219800
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... ORPHA:47159
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Polydipsi... ORPHA:93111
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Parathyroid carcinoma, Shortened QT interval, Panc... ORPHA:143
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Polydipsia, Adrenal hyperplasia, Nephrolithiasis... ORPHA:369929
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ... OMIM:162000
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:241200
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephro... OMIM:601678
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyper... ORPHA:411629
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Shortened QT interval, Pancreatic adenocarcinoma, ... ORPHA:99880
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Weight loss, Abnormal renal tubule morpho... ORPHA:188
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... ORPHA:983
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Polydipsia, ... ORPHA:537
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Increased circulating prolactin concentration, Goite... ORPHA:562
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Wolfram Syndrome
Nephropathy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Gastrointestinal h... ORPHA:3463
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Cryptorchidism, Anterior pituitary hypoplasia, Hypoplasia of penis ORPHA:3157
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Renal dysplasia, Cryptorchidism, Polyuria OMIM:618183
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... ORPHA:95513
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Bruxism, Obesity, Macroorchidism, Restlessness OMIM:300055
Erdheim-Chester Disease
Polydipsia, Congestive heart failure, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypog... ORPHA:35687
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Gitelman Syndrome
Parathyroid adenoma, Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis... ORPHA:358
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, A... ORPHA:99845
Fragile X Syndrome
Self-injurious behavior, Macroorchidism, Attention deficit hyperactivity disorder ORPHA:908
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability OMIM:614227
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Clark-Baraitser syndrome
Obesity, Macroorchidism OMIM:300602
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Failure to thrive OMIM:618874
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Hematuria, Glomerulonephritis, Tubulointerstitial ... ORPHA:340
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss, Anorexia ORPHA:514
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Elevated circulating growth hormone concentration, Hyperacti... ORPHA:85327
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Sinus tachycardia, Goiter, Congestive heart failure, Palpitations,... ORPHA:525731
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia, Adrenal hyperplasia, Intracranial hemorrhage, Hypertension ORPHA:403
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Increased blood urea nitrogen, Hypertension, Hemolytic-uremic syndrome OMIM:235400
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Decreas... ORPHA:542323
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins... ORPHA:727
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Gastrointestinal hemorrhage, Recurrent urinary tract i... ORPHA:731
Brain-Lung-Thyroid Syndrome
Failure to thrive, Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Compulsive behavi... ORPHA:209905
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypotension, Hypopituitarism, Decreased r... ORPHA:91349
Familial Cold Urticaria
Polydipsia ORPHA:47045
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Polydipsia, Cachexia, Anorexia, Myocarditis, Myocardial... ORPHA:3452
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Rabson-Mendenhall Syndrome
Precocious puberty, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Polydipsia, Cardiomyopath... ORPHA:769
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Arrhythmia, Ventricular tachycardia ORPHA:159
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Absent gall... OMIM:617140
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Oliguria, Congestive heart failure ORPHA:1054
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Compulsive behaviors, Aggressive behavior, Macroorchidism, Hyperactivity OMIM:309520
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Hypertension, Pulmonary arterial hypertension, Polyuria, Orthostatic hypotensi... OMIM:606721
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Increased circulating prolactin concentration, Goiter, Attention deficit hyper... ORPHA:90674
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Decreased urine output, Tachycardia, Abnorma... ORPHA:173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ... ORPHA:90790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Bruxism, Unilateral renal hypoplasia, Self-mutilation, Ste... OMIM:619950
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Congestive heart failure, Renal insufficiency, Arrhythm... ORPHA:31824
Sepsis In Premature Infants
Hypotension, Oliguria, Reversible renal failure, Decreased body weight, Bradycardia, Tachycardia,... ORPHA:90051
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Increased circulating prolactin concentration, Decreased res... ORPHA:293987
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Dysphagia, Bradycardia, Myocarditis, Subconjun... ORPHA:319213
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat... OMIM:619351
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Aromatase Deficiency
Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Eunuchoid habitus, Cryptorchi... ORPHA:91
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ... ORPHA:544482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Hemoglobinuria, Hypertension, Myocardial infarction ORPHA:90038
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Proteus Syndrome
Long penis, Thymus hyperplasia, Pulmonary embolism, Enlarged polycystic ovaries, Renal cyst, Cach... ORPHA:744
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria, Mitral regurgitation OMIM:208400
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Reduced left ventricular ejection fra... ORPHA:99829
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria ORPHA:93
Exercise-Induced Malignant Hyperthermia
Hypotension, Acute kidney injury, Oliguria, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650

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 Slc14a2

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 Slc14a2.

No publications found that use IMPC mice or data for Slc14a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc14a2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slc14a2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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