Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ADP-ribosylation factor 6
Synonyms:
N/A

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 Arf6 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 Arf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Death in infancy, Ascites, Restrictive cardiomyopathy, Tri... OMIM:619433
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Preeclampsia, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomega... ORPHA:163596
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis OMIM:236750
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Premature birth, Anemia, Polyhydramnios, Thrombocytopenia, Hydrops fetalis ORPHA:2123
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Death in infancy, Intracranial hemorrhage, Fetal akinesi... ORPHA:85212
Transaldolase Deficiency
Telangiectasia, Edema, Anemia, Cirrhosis, Hepatosplenomegaly, Thrombocytopenia, Hydrops fetalis ORPHA:101028
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Abnormal... OMIM:608540
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... ORPHA:295
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Cardiomyopathy, Polyhydramnios, Cirrhosis, Hepatospleno... OMIM:232500
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Oligohydramnios,... OMIM:231100
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Premature birth, Vacuolated lymphocytes, Splenomegaly, Congestive heart fa... OMIM:269920
Congenital Enterovirus Infection
Fetal ascites, Leukocytosis, Fetal distress, Myocarditis, Neutropenia, Pericardial effusion, Leuk... ORPHA:292
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Gastrointestinal hemorrhage, Microcytic anemia, Pulmonary embolism,... ORPHA:90308
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Fetal distress, Reduced ejection fraction, Paroxysmal su... ORPHA:45452
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis,... OMIM:266200
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Death in infancy, Premature birth, Neonat... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Death in infancy, Premature birth, Neonatal death, Anemia, Cardiomyopa... OMIM:618839
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Atransferrinemia
Abnormality of the liver, Congestive heart failure, Hypochromic anemia OMIM:209300
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly, Pedal edema, Hydrops fetalis ORPHA:87876
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Death in infancy, Ascites, Cirrhosis, Elevated circulating aspartate a... OMIM:617049
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Facial ede... OMIM:256550
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Fetal akinesia sequence, B... OMIM:618815
Achondrogenesis, Type Ib
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis OMIM:600972
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Fetal akinesia sequence... ORPHA:367
Chondrodysplasia, Blomstrand Type
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:215045
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart... OMIM:613313
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Indomethacin Embryofetopathy
Premature birth, Oligohydramnios, Cardiomyopathy, Hydrops fetalis ORPHA:1909
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Cholestasi... OMIM:609015
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Mulibrey Nanism
Hepatomegaly, Ascites, Congestive heart failure, Hydrops fetalis OMIM:253250
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Pancreatic cysts, Abnormality of the pancreas, Oligohydramnios, H... ORPHA:1318
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Death in infancy, Vacuolated l... OMIM:230500
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Premature birth, Increased red blood cell count, Spon... ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Jaundice OMIM:603552
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Twin-to-twin transfusio... ORPHA:1041
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval, Hydrops fetalis OMIM:618052
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Alg8-Cdg
Ascites, Premature birth, Edema, Anemia, Oligohydramnios, Elevated hepatic transaminase, Thromboc... ORPHA:79325
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Pulmonary edema, Ly... OMIM:617300
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Anemia, Polyhydramnios ORPHA:3405
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrops fetalis OMIM:616738
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Premature birth, Neonatal death, Decreased feta... OMIM:608013
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Arrhythmia OMIM:606069
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Dehydration ORPHA:28
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Cardiomyopathy, Abnormality of the liver, Elevated hepatic transaminase... ORPHA:88618
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Autosomal Erythropoietic Protoporphyria
Edema, Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia ORPHA:79278
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Achondrogenesis, Type Ii
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios OMIM:200610
Galactosialidosis
Hepatosplenomegaly, Nonimmune hydrops fetalis, Conjunctival telangiectasia OMIM:256540
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Ascites, Splenomegaly ORPHA:100025
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Pancytopenia, Prolonged QT interval, Atriovent... ORPHA:398124
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia... ORPHA:848
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Farber Disease
Hepatic fibrosis, Ascites, Anemia, Intrahepatic cholestasis with episodic jaundice, Hepatosplenom... ORPHA:333
Hepatoportal Sclerosis
Ascites, Hepatocellular carcinoma, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Mucopolysaccharidosis Type 7
Ascites, Hepatitis, Splenomegaly, Hydrops fetalis, Lymphedema ORPHA:584
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Pulmonary arterial hypertension, Anemia, Splenomegaly, Pancyt... ORPHA:77261
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Premature birth, Anemia, Elevated hepatic transaminase, Thrombocytopenia, ... ORPHA:858
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopen... ORPHA:27
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Ascites, Palpebral edema, Palmar telangiectasia, Pleural effusion, Hydrop... ORPHA:69735
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Pulmonic steno... OMIM:615415
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Nonimmune hydrops fetalis, Pericardial effusion, Hepatic fibrosis, ... OMIM:212065
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Death in infancy, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bon... OMIM:278000
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Pearson Syndrome
Hepatomegaly, Neutropenia, Pancytopenia, Thrombocytopenia, Corneal stromal edema, Macronodular ci... ORPHA:699
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Epistaxis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary h... OMIM:612840
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia, ... ORPHA:79312
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Decreased fetal movement, Anemia, Decreased liver function, Oligohydramnio... OMIM:608104
Protoporphyria, Erythropoietic, 1
Edema, Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Polyhydramnios, Single umbilical artery, Pleural effusion, ... OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Rhabdoid Tumor
Hypertension, Anemia, Neoplasm of the liver, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Anemia, Splenomegaly, Vasculitis ORPHA:37748
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Nonimmune hydrops fetalis, Neonatal death, Stillbirth, Polyh... OMIM:215140
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... ORPHA:3261
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Beta-Thalassemia Intermedia
Hepatomegaly, Leukocytosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Gm1 Gangliosidosis
Premature birth, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Congestive heart failure, Hydr... ORPHA:354
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Cardiomyopathy, Hydrops fetalis, Splenomegaly OMIM:253220
Mosaic Trisomy 9
Asplenia, Polyhydramnios, Abnormal liver lobulation, Single umbilical artery, Oligohydramnios, Hy... ORPHA:99776
Wolman Disease
Hepatomegaly, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepatic failure ORPHA:75233
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Transaldolase Deficiency
Hepatomegaly, Telangiectasia, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cir... OMIM:606003
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia... OMIM:613011
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Achondrogenesis, Type Ia
Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:200600
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Spontaneous abortion, Tachycard... ORPHA:71275
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertens... OMIM:230800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... OMIM:612714
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Neutropenia, Subdural hemorrhage, Megaloblastic anemia, Pulmonary arteria... ORPHA:79282
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Stillbirth, Decreased osteoclast count, Splenomegaly, Extramedulla... OMIM:259720
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Hypertension, Portal fibrosis, Bile duct proliferation, Polyhydramnios... OMIM:613610
Gaucher Disease
Hepatomegaly, Death in infancy, Hepatitis, Anemia, Pulmonary arterial hypertension, Splenomegaly,... ORPHA:355
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Elevated hepatic... ORPHA:98870
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palmar telangiectasia, Palpebral edema, Predominantly lower limb lymph... OMIM:607823
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocyto... ORPHA:824
Trisomy 13
Hydrops fetalis ORPHA:3378
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Elevated hepatic iron concentration, Polyhydramnios, Cirrhosis, H... OMIM:300868
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Pulmonary art... ORPHA:77259
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Cardiomyopathy, Hydrops fetalis ORPHA:79255
Leishmaniasis
Hepatomegaly, Pancytopenia, Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Ele... ORPHA:507
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Anemia, Abnormal mast cell morpho... ORPHA:98850
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Toxemia of pregnancy, Hypertensio... ORPHA:563
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Alg9-Cdg
Hepatomegaly, Pericardial effusion, Hepatic cysts, Decreased fetal movement, Tricuspid regurgitat... ORPHA:79328
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis, Hydrops fetalis OMIM:263520
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Anemia, Cirrhosis, Myeloid leukemia, Aplastic anemia OMIM:614742
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis OMIM:617022
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... OMIM:603554
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Omenn Syndrome
Hepatomegaly, Leukocytosis, Edema, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Desquama... ORPHA:39041
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis OMIM:228520
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Cardiac Valvular Defect, Developmental
Tricuspid regurgitation, Edema, Mitral stenosis, Hydrops fetalis OMIM:212093
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Niemann-Pick Disease Type C
Fetal ascites, Hepatomegaly, Ascites, Bone-marrow foam cells, Splenomegaly, Abnormality of the li... ORPHA:646
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ascites, Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum ORPHA:83469
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Ascites, T lymphocytopenia, Anemia, Pulmonary hemorrhage, Abnormal ly... ORPHA:79124
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic transaminase, Liver abscess ORPHA:54251
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Elevated ci... ORPHA:158061
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Constrictive pericarditis, Anemia, Pleural empyema, Congestive heart failure, Eleva... ORPHA:67
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hepatocellular Carcinoma
Hepatomegaly, Thrombocytosis, Ascites, Hemobilia, Polycythemia, Budd-Chiari syndrome, Anasarca, H... ORPHA:88673
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Single umbilical artery, Spontaneous abortion, Hydrops fetalis ORPHA:1865
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Breech presentation,... ORPHA:440713
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymu... OMIM:612541
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Telangiectasia, Nonimmune hydrops fetalis, Epistaxis, Cerebral ischemia, High-output ... ORPHA:137667
Gamma-Heavy Chain Disease
Hepatomegaly, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:100026
Senior-Boichis Syndrome
Hypertension, Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hep... ORPHA:84081
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Leukopenia, Erythroid hyperplasia, Edema, Splenomegaly, Anisocytosis, ... ORPHA:79277
Mgat2-Cdg
Reflex asystolic syncope, Impaired lymphocyte transformation with phytohemagglutinin, Arrhythmia,... ORPHA:79329
Al Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal P wave, Xerostomia, Anemia, Abnormality of th... ORPHA:85443
Blackfan-Diamond Anemia
Thrombocytosis, Nonimmune hydrops fetalis, Neutropenia, Elevated red cell adenosine deaminase lev... ORPHA:124
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Facial edema, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration OMIM:251110
Hennekam Syndrome
Lymphedema, Pericardial effusion, Ascites, Splenomegaly, Lymphopenia, Hydrops fetalis, Chylothorax ORPHA:2136
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Sepsis In Premature Infants
Hepatomegaly, Leukocytosis, Neutropenia, Thrombocytopenia, Premature birth, Edema, Anemia, Tachyc... ORPHA:90051
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Anemia, Cholestasis, Prolong... OMIM:619377
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Elevated ci... OMIM:615486
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular adenoma, Anemia, Cardiomyopathy, ... ORPHA:264580
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Hypertension, Fetal distress, Hepatic calcification, Pericardial ... ORPHA:51608
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Erythroid hyperplasia, Edema, Splenomegaly, Abnormality of the amnioti... ORPHA:95159
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops fetalis OMIM:602522
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration OMIM:251100
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Hepatitis, Anemia, Splenomegaly, A... ORPHA:781
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Nonimmune hydrops fetalis, Asplenia, Annular pancreas, Neonatal death, P... OMIM:265380
Alveolar Echinococcosis
Cholangitis, Eosinophilia, Pancreatic cysts, Abnormality of mesentery morphology, Budd-Chiari syn... ORPHA:284
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice OMIM:246400
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, Thrombocytopenia,... OMIM:617591
Gastrointestinal Stromal Tumor
Abnormality of the liver, Gastrointestinal hemorrhage, Anemia ORPHA:44890
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Vacuolated lymphocytes, Pulmonary ar... ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia, Jaundice OMIM:105600
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... ORPHA:88
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in infancy, Anemia, Splenomegaly, Death in childhood OMIM:612301
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Yunis-Varon Syndrome
Hypertension, Renovascular hypertension, Pulmonary arterial hypertension, Cardiomyopathy, Polyhyd... ORPHA:3472
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Hydrops fetalis ORPHA:93271
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Mitral regurgitation, Epistaxis, Anemia, Hepatic arteriovenous malformation, Hema... OMIM:175050
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Leukopenia, Erythroid hyperplasia, Budd-Chiari syndrome, Anemia, Myocardial infarct... ORPHA:447
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Yunis-Varon Syndrome
Premature birth, Pulmonary arterial hypertension, Cardiomyopathy, Polyhydramnios, Hydrops fetalis... OMIM:216340

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 Arf6

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 Arf6.

No publications found that use IMPC mice or data for Arf6.

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MGI Allele Allele Type Produced
Arf6tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Arf6tm444865(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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