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
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Elevated circulating creatinine conce... ORPHA:275555
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Hypoglycemia, Ascites, Failure... OMIM:617156
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R... OMIM:300635
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Halothane Hepatitis
Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... ORPHA:905
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Trichohepatoenteric Syndrome 2
Hepatomegaly, Intrauterine growth retardation, Small for gestational age, Colitis, Failure to thr... OMIM:614602
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Hypoglycemia, Vomiting, Growth ... OMIM:251880
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Splen... OMIM:607765
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Growth delay, Vomiting, Increased hepatic glycogen content, Elevated ... OMIM:614921
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated he... OMIM:618549
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Failure to thrive, Chronic otitis media, Hepatitis, Arthritis, Osteomy... ORPHA:33110
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Vomiting, Peritonitis, Nausea, Pneumonia, Elevat... ORPHA:36234
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Elevated circulating creatinine conce... OMIM:616733
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Recurrent otitis media ORPHA:444463
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... ORPHA:2137
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Vomiting, Hepatic steatosis, Cerebral edema, Hyperglycinuria, Elevate... OMIM:201450
X-Linked Agammaglobulinemia
Sinusitis, Short stature, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otiti... ORPHA:47
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis OMIM:161900
Isolated Sedoheptulokinase Deficiency
Severe postnatal growth retardation, Short stature, Hepatitis, Cholestatic liver disease, Steator... ORPHA:440713
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Tubulointerstitial ... OMIM:614817
Wilson Disease
Hepatomegaly, Dysphagia, Hepatocellular carcinoma, Glycosuria, Cirrhosis, Hepatic failure, Aminoa... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Intrauterine growth retardation, Hypoglycemia, Failure to thrive, Elevat... OMIM:618958
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Inte... OMIM:611182
Congenital Isolated Acth Deficiency
Hepatitis, Neonatal hypoglycemia, Prolonged neonatal jaundice, Hypoglycemic seizures, Decreased c... ORPHA:199296
Fanconi-Bickel Syndrome
Hepatomegaly, Generalized aminoaciduria, Fasting hypoglycemia, Growth delay, Hepatocellular carci... ORPHA:2088
Graft Versus Host Disease
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Nausea, Failure to thrive, Fasciitis,... ORPHA:39812
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:614480
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Protracted diarrhea, Failure to thrive secondary to recurrent infections... ORPHA:169160
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abnormal lactate dehydrogenase level, Decreased serum creatinine ORPHA:54057
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Vomiting, Elevated hepatic transami... OMIM:256810
Immunodeficiency 56
Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Chronic diarrh... OMIM:615207
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Angioedema, Pus... ORPHA:139402
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Griscelli Syndrome
Hepatomegaly, Ascites, Short stature, Hepatitis, Splenomegaly, Pedal edema, Jaundice ORPHA:381
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... OMIM:208085
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... OMIM:613027
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Intrauterine growth retardation, Polyhydramnios, He... OMIM:243150
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Short stature, Hepatitis, Splenomegaly, Chronic diarr... OMIM:613385
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Chronic diarrhea, Type I diabetes ... OMIM:304790
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Type II diabetes mellitus, Cholelithiasis, Cholestatic liver disease, Abnor... ORPHA:79095
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... ORPHA:829
Congenital Enterovirus Infection
Fetal ascites, Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Polyhydramn... ORPHA:292
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Cholestasis-Lymphedema Syndrome
Lymphedema, Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver dis... OMIM:214900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Severe short stature OMIM:242530
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gastritis, Type I diabetes mellitu... ORPHA:37042
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Pancreatic hypoplasia, Splenic c... OMIM:610199
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Acute hepatitis, Decreased liver function, Episodic vomiting OMIM:238970
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Anterior uveitis, Panuveitis, Uveitis, Glomerulone... OMIM:607665
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Failure to thrive, Cholestatic liver disease, Elevated hepatic transaminase... OMIM:613404
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Acute hepati... ORPHA:228426
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Infectious encephalitis, Vomiting, Lymphadenitis,... ORPHA:2552
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Tubulointerstitial nephritis, Short stature, Insulin-resi... OMIM:203800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepa... ORPHA:2089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Hypoketotic hypoglycemia, Vomiting, Decreased 3-hydroxyacyl-CoA ... ORPHA:71212
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Infectious encephalitis, Pneumonia... ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Stomatitis, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatiti... OMIM:308230
Avian Influenza
Infectious encephalitis, Vomiting, Pneumonia, Hepatitis, Increased circulating lactate dehydrogen... ORPHA:454836
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Ste... OMIM:269200
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, H... ORPHA:186
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Failure to thrive, Weight loss, Hepatitis, Type I diabetes mellitus, Hashimoto thyr... ORPHA:199299
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Short stature, Splenomegaly, Diarrhea, Abnor... ORPHA:264580
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Ascites, Failure to thrive, Hypertyrosinemi... OMIM:276700
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hepatic fibrosis, Hepatocellular carcinoma, Growth delay, Splenomeg... ORPHA:231226
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Colitis, Protracted diarrhea, Failure to thrive, Chronic mu... OMIM:209920
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Car T Cell Therapy-Associated Cytokine Release Syndrome
Vomiting, Nausea, Elevated circulating creatinine concentration, Increased inflammatory response,... ORPHA:542323
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Vomiting, Increased hepatic glycoge... ORPHA:263455
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Nausea,... ORPHA:79240
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Bloody diarrhea, Intrauterine growth retardation, Peritoneal abscess, He... ORPHA:436252
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Acute pancreatitis, ... ORPHA:319218
Zygomycosis
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Dia... ORPHA:73263
Mucopolysaccharidosis Type 7
Ascites, Hepatitis, Splenomegaly, Umbilical hernia, Hydrops fetalis, Lymphedema ORPHA:584
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Vomiting, Insulin resistance, Rhinitis, Elevated circulating creatinine concentrati... ORPHA:230
Myasthenia Gravis
Dysphagia, Myositis, Hepatitis, Glycosuria, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Protracted diarrhea, Failure to thrive, Rhinitis, Chronic mucocutaneous candidiasis, S... ORPHA:572
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Elevated circulating alkaline phospha... OMIM:235555
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Tubulointerstitial nephritis, Failur... OMIM:124000
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Abnormality of the liver, Gast... ORPHA:91138
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Infectious encephalitis, Pyoderma, Short stature, Pneumonia, Pr... OMIM:307200
Melioidosis
Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Hepatitis, Septic arthritis, ... ORPHA:31202
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Growth delay, Short statur... ORPHA:391487
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Asplenia, Chronic oral candidiasis, Cholelithiasis, Chronic mucocutaneo... OMIM:240300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Hypertyrosinemia, El... ORPHA:247598
Acute Liver Failure
Hepatocellular necrosis, Hypoglycemia, Vomiting, Nausea, Hepatitis, Hepatic necrosis, Gastrointes... ORPHA:90062
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Intestinal obstruction,... ORPHA:131
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227990
Spondyloenchondrodysplasia
Pneumonia, Short stature, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash, Disprop... ORPHA:1855
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Esophagitis, Hepatic steatosis, ... ORPHA:541423
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Dysphagia, Eczema, Erythroderma, Portal fibros... ORPHA:3260
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Vomiting, Nausea, Optic neuritis, Cerebral edema, Myelitis, Viral he... ORPHA:83597
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227982
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver function, Hepatic failure, Elevated h... ORPHA:415
Lichen Planopilaris
Hepatitis ORPHA:525
Rift Valley Fever
Infectious encephalitis, Hepatitis, Melena, Macular edema, Uveitis, Skin rash, Elevated hepatic t... ORPHA:319251
Infantile Liver Failure Syndrome 2
Hypoglycemia, Vomiting, Acute hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:616483
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine OMIM:300539
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sinusitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:300755
Mccune-Albright Syndrome
Primary hypercortisolism, Increased circulating cortisol level, Hepatitis, Hepatocellular adenoma... ORPHA:562
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Vomiting, Nausea, Transient aminoaciduria, Failure to thrive, Glycosu... OMIM:229600
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Anasarca OMIM:123550
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Pneumonia, Failure to thrive, Chronic otitis media, Chronic ora... ORPHA:83471
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Abnormality of alkaline phosphatase level, Maturity-onset diabetes of the ... OMIM:137920
Simple Cryoglobulinemia
Pericarditis, Weight loss, Nephritis, Arthritis, Gastrointestinal hemorrhage, Membranoproliferati... ORPHA:91139
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Cholelithiasis, Elevat... ORPHA:567983
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Arthritis, S... ORPHA:3261
Kawasaki Disease
Myocarditis, Conjunctivitis, Pericarditis, Cheilitis, Edema, Hepatitis, Arthritis, Skin rash, Cho... ORPHA:2331
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... ORPHA:728
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Skin rash ORPHA:1334
Immunodeficiency 82 With Systemic Inflammation
Vomiting, Colitis, Pneumonia, Bronchiectasis, Weight loss, Hepatitis, Recurrent otitis media, Int... OMIM:619381
Gaucher Disease
Hepatomegaly, Dysphagia, Short stature, Hepatitis, Splenomegaly, Cirrhosis, Osteomyelitis, Osteoa... ORPHA:355
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Decreased serum creatinine, Constipation OMIM:618885
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Fulminant hepatitis, Splenomegaly, Hepatic failure OMIM:308240
Lujo Hemorrhagic Fever
Myocarditis, Dysphagia, Vomiting, Nausea, Rhinitis, Fulminant hepatitis, Facial edema, Increased ... ORPHA:319213
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Weight loss, Arthritis, ... ORPHA:48435
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Leptospirosis
Hepatomegaly, Pericarditis, Elevated serum transaminases during infections, Hepatitis, Optic neur... ORPHA:509
Occipital Horn Syndrome
Dysphagia, Hepatitis, Esophagitis, Gastroparesis, Cholestasis, Gastroesophageal reflux, Jaundice ORPHA:198
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Alström Syndrome
Hyperlipidemia, Short stature, Hepatitis, Splenomegaly, Hepatosplenomegaly, Portal hypertension, ... ORPHA:64
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Hepatic necrosis, Fulminant hepatitis, Nephriti... 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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