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 43, member 2
Synonyms:
7630402D21Rik

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 Slc43a2 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 Slc43a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Preeclampsia
Abnormality of the hepatic vasculature, Small for gestational age, Increased body mass index, Ele... ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:613812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Failure to thrive, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Short stature, Recurrent skin infections, Decreased serum creatinine, Growth d... OMIM:617744
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Aminoaciduria, Cholestatic liver disease, ... OMIM:613404
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the... OMIM:300635
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Aminoaciduria, Intrahepatic b... OMIM:208085
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Wilson Disease
Joint swelling, Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, ... ORPHA:905
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly... OMIM:607765
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... OMIM:614602
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... OMIM:614921
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Nausea, Type I... OMIM:618549
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, D... ORPHA:33110
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Diarrhea, Vomiting, ... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Neona... OMIM:608104
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Failure to thrive, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... ORPHA:369
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Postnatal growth retard... OMIM:616733
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hyperglycinuria, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Hepatic ste... OMIM:201450
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... OMIM:214950
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Short stature, Chronic otitis media, Arth... ORPHA:47
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Short stature, Severe postnat... ORPHA:440713
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... OMIM:611182
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent o... OMIM:614379
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hepatomegaly, Dehydration, Hypoglycemia, Elevated hepatic transaminase, Dyspha... OMIM:618958
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... OMIM:614817
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundi... ORPHA:199296
Graft Versus Host Disease
Failure to thrive, Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatas... ORPHA:39812
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosph... ORPHA:2088
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... OMIM:619111
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Diarrhea, Hepatitis, Protracted diarr... ORPHA:169160
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... OMIM:614480
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Short stature, Hepatitis, Pedal edema, Encephalocele, Ascites, Jaundice ORPHA:381
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Type I diab... ORPHA:171
Wilson Disease
Hepatomegaly, Aminoaciduria, Hepatic failure, Splenomegaly, Cirrhosis, Osteoarthritis, Hepatocell... OMIM:277900
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... ORPHA:139402
Thrombotic Thrombocytopenic Purpura
Diarrhea, Decreased serum creatinine, Abnormal lactate dehydrogenase level ORPHA:54057
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Immunodeficiency 56
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... OMIM:615207
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... OMIM:613027
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Short stature, Hepatitis, Type I diabetes me... OMIM:613385
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegal... OMIM:256810
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... ORPHA:158061
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentration, Short statu... OMIM:616026
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Type I diabetes melli... OMIM:304790
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Type II diabetes mellitus, Abnor... ORPHA:79095
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Elevated circulating creatinine concentration, Growth d... OMIM:615605
Adult-Onset Still Disease
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic t... ORPHA:829
Congenital Enterovirus Infection
Skin rash, Hepatic failure, Hydrops fetalis, Myocarditis, Cholestasis, Polyhydramnios, Hepatitis,... ORPHA:292
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Vomiting, Type I diabetes mellitus, Pneumonia, Failure to thrive in infancy, C... ORPHA:37042
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Severe short stature OMIM:242530
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Hypertriglyceridemia, Acute hepatic steatosis, Hep... ORPHA:209902
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Hepatomegaly, Episodic vomiting, Acute hepatitis OMIM:238970
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Elevated circulating creatinine concentration, Uveitis, Glomerulone... OMIM:607665
Avian Influenza
Diarrhea, Myelitis, Vomiting, Increased circulating lactate dehydrogenase concentration, Elevated... ORPHA:454836
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Hypersplenism, Type I diabetes m... ORPHA:228426
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Pneumon... ORPHA:2552
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Nephritis, Otitis media, Short stature,... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased 3-hy... ORPHA:71212
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Q Fever
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... ORPHA:781
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Cerebral Creatine Deficiency Syndrome 2
Episodic vomiting, Decreased serum creatinine OMIM:612736
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepat... OMIM:308230
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul... ORPHA:186
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Late-Onset Isolated Acth Deficiency
Failure to thrive, Constipation, Decreased circulating cortisol level, Diarrhea, Hypoglycemia, He... ORPHA:199299
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Bloody diarrhea, Hepatomegaly, Hematemesis, Skin rash, Splenomeg... OMIM:615846
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Type II diabetes mellitus, Steatorrhea, Cirrhosis, Chronic hep... OMIM:269200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Portal fibrosis, Increased... ORPHA:264580
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Hepatitis, Infectious encephalitis, Pneumonia, Pleural effus... ORPHA:1163
Tyrosinemia, Type I
Melena, Paralytic ileus, Growth delay, Hepatomegaly, Failure to thrive, Hepatic failure, Splenome... OMIM:276700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Skin rash, Diarrhea, Vomiting, Elevated hepatic transaminase, Elevated circulati... ORPHA:542323
Dominant Beta-Thalassemia
Splenomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Hepatocellular carcinoma, Hepatosplenomegal... ORPHA:231226
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Colitis, Viral hepatitis, Biliary tract abnormality, Protracted diarrhea, Chro... OMIM:209920
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Elevated circulating alkaline phos... ORPHA:263455
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Bloody diarrhea, Peritoneal abscess, Polyhydramnios, Hepatitis, ... ORPHA:436252
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Enterocolitis, Hematochezia, Intestinal obstruction, Polyhydramnios, Intrauterin... OMIM:243150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Postnatal growth retardation, Splenomegaly, Keto... ORPHA:79240
Zygomycosis
Melena, Gastritis, Pancreatitis, Diarrhea, Vomiting, Acute infectious pneumonia, Hematochezia, My... ORPHA:73263
Legionnaires Disease
Pancreatitis, Splenomegaly, Diarrhea, Endocarditis, Myocarditis, Hepatitis, Infectious encephalit... ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... ORPHA:183675
Ebola Hemorrhagic Fever
Melena, Maculopapular exanthema, Diarrhea, Vomiting, Acute pancreatitis, Hepatitis, Nausea, Dysph... ORPHA:319218
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Growth delay, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, C... ORPHA:370
Mucopolysaccharidosis Type 7
Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical hernia, Ascites ORPHA:584
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:235555
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Dehydration, Diarrhea, Vomiting, Hypoglycemia, Elevated circulating creatinine ... ORPHA:230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Failure to thrive, Sinusitis, Chronic hepatitis due to cryptosporidium infect... ORPHA:572
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Myositis, Hepatitis, Hashimoto thyroiditis, Dysphagia ORPHA:589
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... OMIM:124000
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Gastrointestinal hemorrhage, Keratoconjun... ORPHA:91138
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Short stature, Enteroviral hepatitis, Diarrhea, Epididymitis, I... OMIM:307200
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... ORPHA:31202
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Enterocolitis, Short stature, Eczema, Diarrhea, Hepatosplen... ORPHA:391487
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Diarrhea, Kera... OMIM:240300
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Intesti... ORPHA:131
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Intrauterine growth retardation, Hepatomegaly, Elevated circulating alkaline phosphatase concentr... ORPHA:247598
Acute Liver Failure
Hepatocellular necrosis, Skin rash, Diarrhea, Vomiting, Hypoglycemia, Elevated hepatic transamina... ORPHA:90062
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... ORPHA:541423
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Failure to thrive, Colitis, Pancreatitis, Inflammatory abnormality of the skin, S... ORPHA:3260
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Hepatitis, Tubulointerstitial nephritis, Type I ... ORPHA:227990
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Episodic vomiting, El... ORPHA:415
Rift Valley Fever
Melena, Hematemesis, Skin rash, Macular edema, Elevated hepatic transaminase, Hepatitis, Uveitis,... ORPHA:319251
Acute Disseminated Encephalomyelitis
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Vomiting, Nausea, Cerebra... ORPHA:83597
Spondyloenchondrodysplasia
Skin rash, Short stature, Juvenile rheumatoid arthritis, Arthritis, Disproportionate short-trunk ... ORPHA:1855
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Hepatitis, Tubulointerstitial nephritis, Type I ... ORPHA:227982
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Lichen Planopilaris
Hepatitis ORPHA:525
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltra... OMIM:613095
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Mccune-Albright Syndrome
Pancreatitis, Gastroesophageal reflux, Increased circulating cortisol level, Cholestasis, Hepatoc... ORPHA:562
Fructose Intolerance, Hereditary
Failure to thrive, Transient aminoaciduria, Hepatomegaly, Cirrhosis, Glycosuria, Vomiting, Hypogl... OMIM:229600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Gout, Hypogl... OMIM:232200
Thymic Aplasia
Failure to thrive, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Diarrhea, Chronic ... ORPHA:83471
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Anasarca OMIM:123550
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... OMIM:137920
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Weight loss, Gas... ORPHA:91139
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphat... ORPHA:30391
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Intractable diarrhea, Colitis, Gastritis, Osteomyelitis, Skin rash, Splenomegaly... OMIM:619381
Autoimmune Lymphoproliferative Syndrome
Colitis, Hepatomegaly, Gastritis, Splenomegaly, Hepatocellular carcinoma, Hydrops fetalis, Arthri... ORPHA:3261
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... ORPHA:567983
Kawasaki Disease
Cheilitis, Conjunctivitis, Skin rash, Diarrhea, Myocarditis, Cholecystitis, Arthritis, Hepatitis,... ORPHA:2331
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht... ORPHA:728
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Skin rash ORPHA:1334
Gaucher Disease
Osteomyelitis, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Osteoarthritis, Hydrops feta... ORPHA:355
Lysosomal Acid Lipase Deficiency
Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Diarrhea, ... ORPHA:275761
Agammaglobulinemia, X-Linked
Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma, Recurrent sinusitis, Epid... OMIM:300755
Lujo Hemorrhagic Fever
Facial edema, Skin rash, Maculopapular exanthema, Generalized edema, Diarrhea, Fulminant hepatiti... ORPHA:319213
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Hepatic failure, Fulminant hepatitis, Infectious encephalitis OMIM:308240
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Orchitis, Membrano... ORPHA:48435
Primary Sjögren Syndrome
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Chronic hepatitis, ... ORPHA:289390
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Ascites, Jaundice, Biliary cirrhosis OMIM:215600
Leptospirosis
Optic neuritis, Hepatomegaly, Skin rash, Diarrhea, Hepatitis, Uveitis, Elevated serum transaminas... ORPHA:509
Occipital Horn Syndrome
Gastroesophageal reflux, Cholestasis, Hepatitis, Esophagitis, Dysphagia, Gastroparesis, Jaundice ORPHA:198
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Otitis media, Hepatic fa... ORPHA:64
X-Linked Lymphoproliferative Disease
Decreased liver function, Colitis, Nephritis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, ... ORPHA:2442

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 Slc43a2

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 Slc43a2.

No publications found that use IMPC mice or data for Slc43a2.

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MGI Allele Allele Type Produced
Slc43a2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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