Gene Summary

Name:
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
Synonyms:
NaDC-3,  SDCT2,  NaDC3

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Slc13a3tm1b(KOMP)Wtsi HOM Early adult 2.24×10-13
increased pulmonary ventilation Slc13a3tm1b(KOMP)Wtsi HOM Early adult 4.25×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Midbrain  Section images heterozygote 66.67% (2 of 3)
Olfactory lobe  Wholemount images heterozygote 33.33% (1 of 3)
Spinal cord  Wholemount images heterozygote 33.33% (1 of 3)
Testis  Section images heterozygote 66.67% (2 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 3)
Jejunum N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

6 Images

Human diseases caused by Slc13a3 mutations

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

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

The table below shows human diseases associated to Slc13a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
OMIM:618384

The table below shows human diseases predicted to be associated to Slc13a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Azotemia, Familial
Azotemia OMIM:109160
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Respiratory insufficiency, Hyperammonemia, Episodic ammonia intox... ORPHA:147
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Respiratory distress OMIM:616733
Coach Syndrome 2
Apneic episodes in infancy, Elevated circulating creatinine concentration OMIM:619111
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Elevated circulating creatinine c... ORPHA:79126
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure requiring assisted ventilatio... ORPHA:90060
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration, Respiratory failure, Respiratory ins... OMIM:602088
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Thrombotic Thrombocytopenic Purpura
Dyspnea, Decreased serum creatinine ORPHA:54057
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Respiratory ... ORPHA:542323
Relapsing Fever
Increased total bilirubin, Cough, Elevated circulating creatinine concentration, Epistaxis, Eleva... ORPHA:91547
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Sickle Cell Anemia
Hypoxemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Respiratory distress, Increased blood urea nitrogen OMIM:274150
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Hyperventilation OMIM:253270
Joubert Syndrome 17
Hyperventilation OMIM:614615
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrogen ORPHA:230
Cardiogenic Shock
Dyspnea, Elevated circulating creatinine concentration, Crackles, Increased pulmonary capillary w... ORPHA:97292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Respiratory distress, Elevated circulating creatinine concentration, Pneumonia, Hyp... ORPHA:36234
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... OMIM:223900
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Chronic pulmonary obstruction, Hyperlipidemia ORPHA:439232
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Hyperuricemia, Apneic episodes in infancy, Neo... ORPHA:348
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Pneumonia ORPHA:247691
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Aspiration pneumonia, ... ORPHA:173
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Multiple Myeloma
Pleural effusion, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hyperventilation OMIM:618775
Biotinidase Deficiency
Apnea, Hyperammonemia, Respiratory distress, Hyperventilation ORPHA:79241
Pauci-Immune Glomerulonephritis
Cough, Elevated circulating creatinine concentration, Dyspnea ORPHA:93126
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Joubert Syndrome 8
Hyperventilation OMIM:612291
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Apnea, Episodic respiratory distress, Dyspnea, Hyperalaninemia, Hyperventi... ORPHA:255210
Igg4-Related Kidney Disease
Interstitial pneumonitis, Elevated circulating creatinine concentration, Decreased retinol-bindin... ORPHA:449395
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Hyperventilation OMIM:610954
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Elevated circulating creatine kinase concentration, Tachyp... ORPHA:90068
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, Central apnea, Hyperventilation ORPHA:522077
Pitt-Hopkins Syndrome
Sleep apnea, Hyperventilation, Abnormal pattern of respiration ORPHA:2896
Acute Liver Failure
Hypocapnia, Abnormal respiratory system physiology, Abnormal pattern of respiration, Hyperammonem... ORPHA:90062
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Pallister-Killian Syndrome
Hyperventilation OMIM:601803
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
OMIM:618384

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 Slc13a3

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 Slc13a3.

No publications found that use IMPC mice or data for Slc13a3.

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MGI Allele Allele Type Produced
Slc13a3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Slc13a3tm355928(L1L2_Bact_P) Targeting vectors
Slc13a3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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