Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
Nadc1,  mNaDC-1,  sodium/dicarboxylate co-transporter

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Slc13a2 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 Slc13a2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Abnormality of urine homeostasis OMIM:260800
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Elevated urinary catecholamine level ORPHA:635
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Phosphohydroxylysinuria OMIM:615011
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria OMIM:219500
Aminoaciduria ORPHA:716
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Gastric Cancer
Increased level of L-fucose in urine OMIM:613659
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Carnosinuria OMIM:212200
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Hyperlysinuria OMIM:236900
Abnormal urine carbohydrate level ORPHA:2843
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hyperglycinuria, Glycosuria OMIM:138070
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria OMIM:268700
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria OMIM:251120
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Glycosuria OMIM:618857
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Hyperthreoninuria OMIM:273770
Camptodactyly 1
Increased urinary taurine OMIM:114200
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Aminoaciduria OMIM:236800
Orthostatic Intolerance
Elevated urinary norepinephrine level OMIM:604715
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Glycosuria ORPHA:2089
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Hyperlysinuria, Cystinuria OMIM:222350
Increased urinary sulfate, Nephrolithiasis OMIM:620372
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria OMIM:210200
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria OMIM:613657
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci... OMIM:615751
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Carnosinuria OMIM:236130
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Increased urinary taurine OMIM:237400
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis OMIM:260005
Variegate Porphyria
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria OMIM:176200
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Pancreatic Cancer
Increased level of L-fucose in urine OMIM:260350
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria OMIM:620089
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis OMIM:261680
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hyperglycinuria, Organic aciduria OMIM:210210
Methylmalonic Aciduria, Cbla Type
Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level... OMIM:251100
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... ORPHA:2197
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Lacticaciduria OMIM:619167
Hyperprolinemia, Type I
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239500
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria ORPHA:79644
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria OMIM:251110
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria OMIM:615453
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Tyrosinemia, Type Iii
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Cystathioninuria, Nephrolithiasis ORPHA:212
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Gracile Syndrome
Aminoaciduria OMIM:603358
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Diaminoaciduria ORPHA:90
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria OMIM:255100
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Beta-Ketothiolase Deficiency
Ketonuria ORPHA:134
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria ORPHA:480864
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria ORPHA:20
Propionic Acidemia
Organic aciduria ORPHA:35
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria ORPHA:79282
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Histidinuria OMIM:235800
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Urocanase Deficiency
Urocanic aciduria OMIM:276880
Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:140350
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria OMIM:276600
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria ORPHA:79159
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Lipoyltransferase 1 Deficiency
Alaninuria, Hyperglutaminuria, Lacticaciduria OMIM:616299
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Urocanic Aciduria
Urocanic aciduria ORPHA:210128
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria OMIM:614741
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Ketonuria ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Aminoaciduria, Lacticaciduria OMIM:619386
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Histidinuria ORPHA:2157
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ... OMIM:246450
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Scorpion Envenomation
Ketonuria, Acute kidney injury, Glycosuria ORPHA:466677
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia OMIM:604273
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Riboflavin Deficiency
Dicarboxylic aciduria OMIM:615026
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
2-ethylhydracylic aciduria OMIM:610006
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria OMIM:618811
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy OMIM:612075
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria OMIM:614707
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria OMIM:618247
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy OMIM:613404
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias OMIM:220111
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... OMIM:605711
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa... OMIM:171400
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria OMIM:613070
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria OMIM:253270
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Methylmalonic aciduria OMIM:245400
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy ORPHA:213
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... ORPHA:2088
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... ORPHA:812
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria ORPHA:431361
Holocarboxylase Synthetase Deficiency
Organic aciduria ORPHA:79242
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria OMIM:620191
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria OMIM:618250
Hyperparathyroidism, Neonatal Severe
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria OMIM:239200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... OMIM:208085
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... OMIM:619743
Combined Oxidative Phosphorylation Deficiency 19
Lacticaciduria OMIM:615595
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Leigh Syndrome
Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren... ORPHA:506
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Diaminoaciduria, Oroticaciduria OMIM:207800
Amish Lethal Microcephaly
Organic aciduria ORPHA:99742
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria OMIM:616457
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... OMIM:219800
D-Glyceric Aciduria
Aminoaciduria, Micropenis OMIM:220120
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria OMIM:207900
Lysinuric Protein Intolerance
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... ORPHA:470
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Lysinuric Protein Intolerance
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria OMIM:222700
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Citrullinemia, Classic
Oroticaciduria OMIM:215700
Fumarase Deficiency
Elevated urine fumaric acid level, Aminoaciduria, Bilateral fetal pyelectasis, Increased urine su... OMIM:606812
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Biotinidase Deficiency
Organic aciduria OMIM:253260
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Ethylmalonic aciduria, Aciduria OMIM:203700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Oroticaciduria OMIM:620358
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria OMIM:311250
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Biotinidase Deficiency
Organic aciduria ORPHA:79241
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria OMIM:619055
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Lacticaciduria, Abnormal renal tubule morphology ORPHA:255210
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria OMIM:609242
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Aminoaciduria, Nephrolithiasis ORPHA:56
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria ORPHA:415
Pyruvate Carboxylase Deficiency
Lacticaciduria ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria OMIM:124000
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... OMIM:619991


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 Slc13a2

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 Slc13a2.

No publications found that use IMPC mice or data for Slc13a2.

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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
Slc13a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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