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Gene: Slc43a2 MGI:2442746

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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

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 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
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Fai... OMIM:613812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Acute hepatitis, Episodic vomiting, Hepatomegaly, Ho... OMIM:238970
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Giant cell hepatitis, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:613404
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hyp... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia, Elevated circulating creatinine conce... OMIM:617872
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevated circulati... OMIM:208085
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ... ORPHA:275555
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Intrauterine growth retardation, Decreased serum creatinine, Short stature, Re... OMIM:617744
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... ORPHA:139507
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepa... OMIM:614921
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Cirrhosis, Chronic... OMIM:614602
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinu... ORPHA:33110
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Bacterial Toxic-Shock Syndrome
Pneumonia, Diarrhea, Vomiting, Hepatitis, Fasciitis, Elevated circulating creatinine concentratio... ORPHA:36234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Diarrhea 13
Vomiting, Elevated circulating hepatic transaminase concentration, Secretory diarrhea, Failure to... OMIM:620357
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia,... OMIM:201450
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Recurrent cutaneous ... ORPHA:47
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hepatitis, Decreased circulating cortisol level, Prolonged neonatal jaundi... ORPHA:199296
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, ... ORPHA:39812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal f... OMIM:251880
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Failure to thrive, Glycos... ORPHA:2088
Griscelli Syndrome
Hepatitis, Ascites, Splenomegaly, Encephalocele, Hepatomegaly, Short stature, Jaundice, Pedal edema ORPHA:381
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute hepatic fai... ORPHA:139402
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to thrive secondary to recurrent inf... ORPHA:169160
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper... OMIM:613385
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi... OMIM:615207
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Failure to thrive, Eczematoid dermatitis, Ileus, Erythroderm... OMIM:304790
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Elevated circulating... OMIM:614817
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hypercholest... OMIM:306000
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... ORPHA:158061
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia,... OMIM:616026
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Lymphedema, Neonatal cholest... OMIM:214900
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal fibrosis, Failure to t... OMIM:605814
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... ORPHA:209902
Congenital Enterovirus Infection
Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Pleural effusion, Skin rash, Polyhydramni... ORPHA:292
Avian Influenza
Pneumonia, Myelitis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration,... ORPHA:454836
Wilson Disease
Aminoaciduria, Hepatic failure, Portal fibrosis, Vomiting, Glycosuria, Edema, Acute hepatic failu... OMIM:277900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Acute hepatic failure, Hepatos... ORPHA:228426
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, H... ORPHA:186
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti... ORPHA:2552
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Ski... ORPHA:829
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Failure to thrive, Enteroviral encephalitis, Sclerosing cholangitis, Splenom... OMIM:308230
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Diarrhea, Hepatitis, Failure to thrive, Hypoglycemia, Hashimoto thyroid... ORPHA:199299
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Intrauterine g... OMIM:610199
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Sinusi... ORPHA:1163
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Intrauterine... OMIM:615846
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Dominant Beta-Thalassemia
Hepatic fibrosis, Diarrhea, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism, Sple... ORPHA:231226
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Type II diabetes... OMIM:269200
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Biliary tract abnormal... OMIM:209920
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal ... ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Inte... OMIM:243150
Zygomycosis
Diarrhea, Pustule, Colitis, Acute infectious pneumonia, Periorbital edema, Endocarditis, Gastroin... ORPHA:73263
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... OMIM:276700
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Melena, Nausea, M... ORPHA:319218
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psorias... ORPHA:436252
Legionnaires Disease
Diarrhea, Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, ... ORPHA:549
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Re... ORPHA:79240
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Umbilical hernia, Splenomegaly, Hydrops fetalis ORPHA:584
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Elevated circulating... ORPHA:542323
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemi... OMIM:615453
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Intrauterine g... OMIM:620565
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:203800
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Skin rash, S... ORPHA:572
Tyrosinemia, Type Iii
Elevated circulating hepatic transaminase concentration, Hypertyrosinemia OMIM:276710
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, ... ORPHA:91138
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Myositis, Hashimoto thyroiditis, Dysphagia ORPHA:589
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Septic arthritis, Recurrent otitis media, Pyoderma, Infectious encephalitis,... OMIM:307200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Type I diabetes mellitus, Cholelithiasis, Diarrhea, Chronic mucocutaneous can... OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Melioidosis
Pneumonia, Foot osteomyelitis, Hepatitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... ORPHA:31202
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Diarrhea, Inflammatory abnormality of the skin, Hepatitis, Eczematoid d... ORPHA:391487
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to t... ORPHA:415
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat... ORPHA:247598
Acute Disseminated Encephalomyelitis
Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Cerebral edema, Nausea, Viral he... ORPHA:83597
Lichen Planopilaris
Hepatitis ORPHA:525
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... OMIM:124000
Rift Valley Fever
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Inf... ORPHA:319251
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Vomi... ORPHA:3260
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Type I diabetes mellitus, Biliary cirrhosis, Xerostomia, Hepatitis, Rheumatoi... ORPHA:227990
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, H... ORPHA:90062
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Disproportionate short-trunk short stature, Arthritis, Short sta... ORPHA:1855
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Type I diabetes mellitus, Biliary cirrhosis, Xerostomia, Hepatitis, Rheumatoi... ORPHA:227982
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Elevated circulating hepatic transaminase c... OMIM:229600
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Atypical or prolonged hepatitis, S... ORPHA:83471
Mccune-Albright Syndrome
Gastroesophageal reflux, Increased circulating cortisol level, Hepatitis, Cholestasis, Primary hy... ORPHA:562
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Intractable diarrhea, Diarrhea, Vomiting, Hepatitis, Pustular rash, Recurrent otitis m... OMIM:619381
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Weight loss, Arthritis, Membranoproliferative glomerulone... ORPHA:91139
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Hypersplenism, Splenomegaly, Gastritis, Glomer... ORPHA:3261
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Generalized edema, Diarrhea, Elevated circulating hepatic transa... ORPHA:319213
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Hepa... ORPHA:355
Kawasaki Disease
Diarrhea, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Jaundice, ... ORPHA:2331
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulminant hepatitis OMIM:308240
Primary Sjögren Syndrome
Biliary cirrhosis, Xerostomia, Arteritis, Parotitis, Chronic hepatitis, Lymphocytic interstitial ... ORPHA:289390
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Leptospirosis
Uveitis, Diarrhea, Hepatitis, Pleural effusion, Skin rash, Elevated serum transaminases during in... ORPHA:509
Occipital Horn Syndrome
Gastroesophageal reflux, Hepatitis, Cholestasis, Gastroparesis, Esophagitis, Jaundice, Dysphagia ORPHA:198
Alström Syndrome
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes ... ORPHA:64

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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