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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... OMIM:619468
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Polyuria, Hypercalciuria, Medullary nephrocalcinosis,... OMIM:616963
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
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
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Polydipsia OMIM:222100
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Abnormal renal tubule morphology, ... ORPHA:93101
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Polyuria, Hydronephrosis, Polydipsia OMIM:304900
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalc... OMIM:143880
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Polydipsia, Renal tubular acidosi... OMIM:248250
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia, Pollakisuria ORPHA:95626
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polyuria, Megacystis, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polyuria, Megacystis, Polydipsia OMIM:304800
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Hypertension OMIM:613677
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Hypogonadism, Obesity, Stage 5 chronic kidney disease OMIM:615994
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Pulmona... OMIM:613845
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss, Nocturia ORPHA:178029
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrogenic Diabetes Insipidus
Failure to thrive, Polydipsia, Hypovolemia, Hydroureter, Hyposthenuria, Functional abnormality of... ORPHA:223
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Familial Male-Limited Precocious Puberty
Oligospermia, Precocious puberty, Macroorchidism, Long penis ORPHA:3000
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Aminoaciduria, Primary hyperparathyroidism, Polyuria, Hypercalciur... OMIM:239200
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag... ORPHA:2260
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Helix Syndrome
Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency, Hyperparathyroidism OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Renal sodium wasting, Renal potassium wasting,... OMIM:612780
Gitelman Syndrome
Failure to thrive, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Palpitations, Hyp... OMIM:263800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, H... OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Renal insufficiency, Obesity OMIM:615986
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria,... OMIM:612925
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia, Abnormal urine sodium concentration, Renal insufficiency, Hyperten... ORPHA:320
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Aminoaciduria, Nephropathy, Proteinuria... ORPHA:213
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Polyuria, Proximal tubulopathy OMIM:560000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Acute kidney injury, Proteinuria, Hypertension, Anuria,... OMIM:612926
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Bartter Syndrome, Type 3
Increased urinary potassium, Polyuria, Hypocalciuria, Hypotension, Renal potassium wasting, Hyper... OMIM:607364
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Familial Renal Glucosuria
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria ORPHA:69076
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Pulmonary embolism, Abnormal glomerular visce... ORPHA:567548
Familial Hyperaldosteronism Type Iii
Polydipsia, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Adrenal hyperplasia, Hypertension... ORPHA:251274
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
East Syndrome
Polydipsia, Salt craving, Renal magnesium wasting, Renal sodium wasting, Enuresis, Abnormal urina... ORPHA:199343
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Denys-Drash Syndrome
Nephrotic syndrome, Male pseudohermaphroditism, Nephroblastoma, Nephropathy, Gonadal dysgenesis, ... ORPHA:220
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Polydipsia, Aminoaciduria, Hy... ORPHA:411634
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Aminoaciduria, Decreased glomerular filtration ra... ORPHA:18
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Aminoaciduria, Hyperuricosuria, Hypovolemia, Glyc... ORPHA:47159
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Cystinosis, Nephropathic
Nephrolithiasis, Polydipsia, Medullary nephrocalcinosis, Aminoaciduria, Polyuria, Glycosuria, Hem... OMIM:219800
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... ORPHA:84081
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Hypertension, Epistaxis ORPHA:231580
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Polydipsia, Failure to thrive, Increased urinary potassium, Renal juxtagl... OMIM:241200
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Failure to thrive, Increased urinary potassium, Renal juxtaglomerular cel... OMIM:601678
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Intracranial hemorrhage, Adrenal hyperplasia, Second degree atrioven... ORPHA:369929
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, P... ORPHA:93111
Parathyroid Carcinoma
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Parathyroid carcinoma, Pr... ORPHA:143
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Aminoaciduria, Glycosuria, Low-molecula... ORPHA:411629
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Parathyroid adenoma, Prim... ORPHA:99880
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... ORPHA:8
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Weight loss, Re... ORPHA:188
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Hematochezia, Cryptorchidism, Renal dysplasia OMIM:618183
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Congestive heart failure, Macroorchidism ORPHA:3077
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Elevated circulating grow... ORPHA:562
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Bladder duplication, Chordee, Dist... ORPHA:237
Wolfram Syndrome
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... ORPHA:3463
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Toxic Epidermal Necrolysis
Dysuria, Abnormal vagina morphology, Polydipsia, Sudden cardiac death, Abnormality of the urethra... ORPHA:537
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis, Obesity, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:3157
Gitelman Syndrome
Polydipsia, Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, ... ORPHA:358
Panhypophysitis
Polydipsia, Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, ... ORPHA:95513
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Arrhythmia, Oliguria, Acute kidney injury, Renal insufficien... ORPHA:99845
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Erdheim-Chester Disease
Dysuria, Polydipsia, Hypogonadotropic hypogonadism, Renal insufficiency, Hydronephrosis, Weight l... ORPHA:35687
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency OMIM:300323
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Failure to thrive, Macroorchidism OMIM:618874
Clark-Baraitser syndrome
Obesity, Macroorchidism OMIM:300602
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Trisomy 20P
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... ORPHA:261318
Atkin-Flaitz Syndrome
Obesity, Macroorchidism OMIM:300431
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Truncal obesity, Macroorchidism ORPHA:284180
Hypouricemia, Renal, 1
Hyperuricosuria, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis OMIM:220150
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Dec... ORPHA:340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Acute kidney injury, Hypertension, Anuria, Hemolytic-uremic syndrome OMIM:235400
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Dysphagia, Pulmon... ORPHA:220393
Familial Hyperaldosteronism Type I
Polydipsia, Intracranial hemorrhage, Adrenal hyperplasia, Hypertension, Epistaxis ORPHA:403
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Macroorchidism OMIM:300055
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Acute kidney in... ORPHA:542323
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Sinus tachycardia, Goiter, Palpitations, Polyphagia, Hypertension,... ORPHA:525731
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Fragile X Syndrome
Macroorchidism ORPHA:908
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Macroorchidism, Mitral regurgitation, Atrial flut... ORPHA:324410
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Reduced renal corticomedullary differentiation, Hypertension, Recurrent urinary tract... ORPHA:731
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Decreased response to... ORPHA:91349
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Familial Cold Urticaria
Polydipsia ORPHA:47045
Lassa Fever
Oliguria, Shock, Dysphagia ORPHA:99824
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Budd-Chiari syndrome, Increased blood urea nitroge... ORPHA:49041
Ethylene Glycol Poisoning
Renal tubular dysfunction, Tachycardia, Hematuria, Hypotension, Atrial fibrillation, Shock, Renal... ORPHA:31826
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Rabson-Mendenhall Syndrome
Polydipsia, Precocious puberty, Long penis, Enlarged ovaries, Clitoral hypertrophy, Nephrocalcino... ORPHA:769
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Thyroid dysgenesis, Hypospadias, Abnormal eating behavior,... ORPHA:209905
Zttk Syndrome
Failure to thrive, Unilateral renal agenesis, Polyuria, Absent gallbladder, Aortic regurgitation,... OMIM:617140
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Whipple Disease
Polydipsia, Cachexia, Myocarditis, Hypotension, Myocardial infarction, Gastrointestinal hemorrhag... ORPHA:3452
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Small for gestational age, Orthostatic hypotension, Polyuria, Dysphagia, Hyper... OMIM:606721
Cholera
Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypotension, Acute kidney injury,... ORPHA:173
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Myocardial infarction, Proteinuria, Tra... OMIM:274150
Aneurysm Of Sinus Of Valsalva
Oliguria, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia i... ORPHA:90790
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Myocarditis, Hypotension, Oliguria, Renal insufficien... ORPHA:31824
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Increased circulating prolactin c... ORPHA:90674
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Anterior hypopituitarism,... ORPHA:91351
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Tachycardia, Hypotension, Reversible renal fail... ORPHA:90051
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... OMIM:619351
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Oliguria, Shock, Renal insufficiency, Subconjunctival hemorrhage, Dysph... ORPHA:319213
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Aromatase Deficiency
Ambiguous genitalia, female, Eunuchoid habitus, Hypergonadotropic hypogonadism, Macroorchidism, p... ORPHA:91
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulat... ORPHA:293987
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Failure to thrive, Unilateral renal hypoplasia, Precocious puberty, Macroorchidism OMIM:619950
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Myocarditis, Oliguria, Acute kidney injury, Hypertensive crisis, Dec... ORPHA:544482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Myocardial infarction, Acute kidney injury, Hypertension, Anuria ORPHA:90038
Carney Complex
Pituitary growth hormone cell adenoma, Ovarian cyst, Increased circulating prolactin concentratio... ORPHA:1359
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Proteus Syndrome
Ovarian neoplasm, Cachexia, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Long p... ORPHA:744
Aspartylglucosaminuria
Mitral regurgitation, Aspartylglucosaminuria, Macroorchidism OMIM:208400
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Shock, Reduced left ventricular... ORPHA:99829
Aspartylglucosaminuria
Aspartylglucosaminuria, Macroorchidism ORPHA:93
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Oliguria, Acute kid... 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

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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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