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Gene: Slc13a2 MGI:1276558

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 13 (sodium-dependent dicarboxylate transporter), member 2

Synonyms:

Nadc1, mNaDC-1, sodium/dicarboxylate co-transporter

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 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.

Human diseases associated with Slc13a2 (0 diseases)
Human diseases predicted to be associated with Slc13a2 (252 diseases)

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	Matching phenotypes	Source
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
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Cystathioninuria	Cystathioninuria	OMIM:219500
Phenylketonuria	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
Carnosinemia	Carnosinuria	OMIM:212200
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Pentosuria	Abnormal urine carbohydrate level	ORPHA:2843
Hyperglycinuria	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
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Saccharopinuria	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
Iminoglycinuria	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
Threoninemia	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
Hydroxykynureninuria	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
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Hypersulfaturia	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
Homocarnosinosis	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
Hyper-Beta-Alaninemia	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	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
Hawkinsinuria	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
Argininemia	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
Histidinemia	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	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
Histidinemia	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
Cystinosis	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
Argininemia	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
Alkaptonuria	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

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 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.

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
Slc13a2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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