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Gene: Acox2 MGI:1934852

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

acyl-Coenzyme A oxidase 2, branched chain

Synonyms:

N/A

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 Acox2 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.

Human diseases associated with Acox2 (1 diseases)
Human diseases predicted to be associated with Acox2 (223 diseases)

The table below shows human diseases associated to Acox2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bile Acid Synthesis Defect, Congenital, 6			OMIM:617308

The table below shows human diseases predicted to be associated to Acox2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi...	OMIM:600803
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Cirrhosis, Familial	Cirrhosis, Hepatitis, Chronic active hepatitis	OMIM:118900
Biliary Atresia, Extrahepatic	Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary...	OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B...	OMIM:602347
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation	OMIM:616217
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct...	OMIM:617394
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno...	ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul...	OMIM:619662
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice	OMIM:234350
Cyanosis And Hepatic Disease	Hepatitis	OMIM:219400
Alpha-1-Antitrypsin Deficiency	Hepatitis, Hepatomegaly, Jaundice, Hepatic failure	ORPHA:60
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans...	OMIM:613027
Meckel Syndrome, Type 3	Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate	OMIM:607361
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail...	OMIM:613812
Isolated Biliary Atresia	Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph...	ORPHA:30391
Complement Component 4B Deficiency	Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media	OMIM:614379
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ...	OMIM:214950
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Giant cell hepatitis, Jaundice	OMIM:214980
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Neoplasm of the pancreas	ORPHA:438274
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation...	OMIM:208540
Meckel Syndrome, Type 7	Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ...	OMIM:267010
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the...	OMIM:300635
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Splenomegaly	ORPHA:444463
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated hepatic transaminase	OMIM:300752
Meckel Syndrome, Type 6	Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease	OMIM:612284
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega...	ORPHA:567983
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, Splenomegaly	OMIM:224100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc...	ORPHA:562639
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr...	OMIM:618549
African Iron Overload	Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,...	ORPHA:139507
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated...	OMIM:203700
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr...	OMIM:607765
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Intrahepat...	OMIM:605479
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit...	OMIM:615207
Immune Deficiency Disease	Fulminant hepatitis, Cholangitis	OMIM:242850
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Disorder Of Bile Acid Synthesis	Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality	ORPHA:79168
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le...	OMIM:618329
Serrated Polyposis Syndrome	Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can...	ORPHA:157798
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno...	ORPHA:79303
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Hardikar Syndrome	Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila...	OMIM:301068
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga...	ORPHA:209902
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase concentration, ...	ORPHA:521219
Wilson Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Elevated hepatic transam...	ORPHA:905
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ...	ORPHA:79301
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele...	ORPHA:65682
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice	OMIM:194380
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice	ORPHA:79234
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly	ORPHA:848
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology	ORPHA:3032
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferati...	OMIM:208500
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ...	ORPHA:33110
Caroli Syndrome	Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent...	ORPHA:480520
D-Bifunctional Protein Deficiency	Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ...	OMIM:261515
Melioidosis	Splenic abscess, Prostatitis, Osteoarthritis, Parotitis, Abnormality of the spleen, Acute infecti...	ORPHA:31202
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Eczema, Cirrhosis	ORPHA:79278
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit...	ORPHA:79095
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum...	ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin...	OMIM:611182
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Recurrent pneumonia, Chol...	OMIM:613610
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy...	ORPHA:101330
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Sp...	OMIM:619525
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Cholecystitis, Pigment ...	OMIM:613470
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino...	ORPHA:90003
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail...	ORPHA:171
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Arthritis, Hepatitis, Recurr...	ORPHA:47
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir...	ORPHA:158061
Primary Biliary Cholangitis	Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul...	ORPHA:186
Alpha-Thalassemia	Cholelithiasis, Splenomegaly, Myelodysplasia, Jaundice, Hypersplenism	ORPHA:846
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczema, Hepatic failure	OMIM:177000
Adult-Onset Still Disease	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Hep...	ORPHA:829
Drug Reaction With Eosinophilia And Systemic Symptoms	Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati...	ORPHA:139402
Bare Lymphocyte Syndrome, Type Ii	Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou...	OMIM:209920
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis	ORPHA:525
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, H...	OMIM:269200
Erythrocytosis, Familial, 8	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:222800
Trichohepatoenteric Syndrome 2	Cirrhosis, Chronic hepatitis, Colitis, Hepatomegaly	OMIM:614602
Graft Versus Host Disease	Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Ma...	ORPHA:39812
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Portal hypertens...	OMIM:613658
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert...	ORPHA:1414
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jau...	OMIM:613404
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles...	ORPHA:731
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta...	OMIM:614921
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing ch...	OMIM:308230
Neurofibroma	Abnormal biliary tract morphology, Symmetric spinal nerve root neurofibromas, Facial neoplasm, Pl...	ORPHA:252183
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce...	ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly	OMIM:235700
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o...	ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Elevated gamma-glu...	OMIM:208085
Griscelli Syndrome	Hepatitis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:381
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop...	ORPHA:183675
Isolated Sedoheptulokinase Deficiency	Hepatitis, Cholestatic liver disease, Portal hypertension, Cholestasis	ORPHA:440713
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Intrahepatic bile duct dil...	OMIM:619534
Cirrhosis, Familial	Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Biliary cirrhosis	OMIM:215600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Portal hypertension...	ORPHA:228426
Meckel Syndrome, Type 1	Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation...	OMIM:249000
Congenital Enterovirus Infection	Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious encephalitis	ORPHA:292
Aspergillosis	Keratitis, Sinusitis, Osteomyelitis, Hematological neoplasm, Hepatitis, Infectious encephalitis, ...	ORPHA:1163
Legionnaires Disease	Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Perica...	ORPHA:549
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hepatomegaly	OMIM:238970
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Myositis	ORPHA:565899
Spherocytosis, Type 1	Cholelithiasis, Jaundice, Splenomegaly	OMIM:182900
Autoimmune Polyendocrinopathy Type 4	Thymoma, Iridocyclitis, Rheumatoid arthritis, Atrophic gastritis, Hepatitis, Tubulointerstitial n...	ORPHA:227990
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ...	OMIM:610199
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep...	OMIM:211600
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Extrahepatic cholestasis, Neuroendocrine neoplas...	ORPHA:100086
Autoimmune Polyendocrinopathy Type 3	Thymoma, Iridocyclitis, Rheumatoid arthritis, Atrophic gastritis, Autoimmune hypoparathyroidism, ...	ORPHA:227982
Q Fever	Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi...	ORPHA:781
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi...	OMIM:307200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma	OMIM:304790
Microsporidiosis	Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit...	ORPHA:2552
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,...	ORPHA:733
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Avian Influenza	Myelitis, Increased circulating lactate dehydrogenase concentration, Elevated hepatic transaminas...	ORPHA:454836
Bacterial Toxic-Shock Syndrome	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi...	ORPHA:36234
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice, Reduced red cell pyruvate ki...	OMIM:266200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Iridocyclitis, Chronic active hepatitis, Chronic oral candidi...	OMIM:240300
Mccune-Albright Syndrome	Elevated circulating growth hormone concentration, Pancreatitis, Benign gastrointestinal tract tu...	ORPHA:562
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice, Gout	OMIM:232800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Hypersplenism	OMIM:613385
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Basal cell carcinoma, Uveitis, Hypersplenism, T-ce...	ORPHA:3261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Splenomegaly, Inflammatory...	ORPHA:37042
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl...	ORPHA:572
Cystic Fibrosis	Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis	ORPHA:586
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Hashimoto thyroiditis, Abnormality of th...	ORPHA:436252
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Myositis	ORPHA:589
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi...	OMIM:615710
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Ne...	OMIM:203800
Dominant Beta-Thalassemia	Hypoparathyroidism, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatos...	ORPHA:231226
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Lymphoproliferative Syndrome, X-Linked, 1	Burkitt lymphoma, Hepatomegaly, Splenomegaly, Hepatic failure, Fulminant hepatitis, Lymphoma, Inf...	OMIM:308240
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Skin rash, Enchondroma, Juvenile rheumatoi...	ORPHA:1855
Mucopolysaccharidosis Type 7	Hepatitis, Splenomegaly	ORPHA:584
Chronic Mucocutaneous Candidiasis	Hepatitis, Skin rash, Cheilitis	ORPHA:1334
Primary Hepatic Neuroendocrine Carcinoma	Elevated alkaline phosphatase of hepatic origin, Neoplasm of the liver, Hepatomegaly, Intrahepati...	ORPHA:100085
Simple Cryoglobulinemia	B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Membranoproliferative glomerulonep...	ORPHA:91139
Wilson Disease	Hypoparathyroidism, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure...	OMIM:277900
Relapsing Polychondritis	Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht...	ORPHA:728
Cystic Echinococcosis	Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk...	ORPHA:400
Liver Disease, Severe Congenital	Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai...	OMIM:619991
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enterocolitis, Hypoplasia of the thymus, T-cell lymphoma, Psoriasiform dermatitis, Interface hepa...	OMIM:243150
Rift Valley Fever	Skin rash, Elevated hepatic transaminase, Hepatitis, Uveitis, Infectious encephalitis, Jaundice	ORPHA:319251
Thymic Aplasia	Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Aplasia of the thymus, Chronic otitis...	ORPHA:83471
Agammaglobulinemia, X-Linked	Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma, Recurrent sinusitis, Epid...	OMIM:300755
Grfoma	Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ...	ORPHA:97261
Zygomycosis	Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ...	ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Enterocolitis, Oropharyngeal squamous cell carcinoma, Eczem...	ORPHA:391487
Ppoma	Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ...	ORPHA:97278
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatitis	ORPHA:415
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Hepatomegaly, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular infl...	ORPHA:83617
Idiopathic Hypereosinophilic Syndrome	Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Myeloproliferative dis...	ORPHA:3260
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Hepatitis, Hashimo...	ORPHA:199299
Kawasaki Disease	Cheilitis, Conjunctivitis, Skin rash, Myocarditis, Cholecystitis, Arthritis, Hepatitis, Pericardi...	ORPHA:2331
Acute Disseminated Encephalomyelitis	Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis	ORPHA:83597
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Skin rash, Splenomegaly, Atopic dermatitis, Chilblains, Arthritis, Hepatitis, Pneum...	OMIM:615846
Beta-Thalassemia Intermedia	Cholelithiasis, Hypoparathyroidism, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhos...	ORPHA:231222
Primary Sjögren Syndrome	Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Lymphoproliferative...	ORPHA:289390
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy...	OMIM:175200
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Osteomyelitis, Skin rash, Splenomegaly, Rec...	OMIM:619381
Sialuria	Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly	ORPHA:3166
Glycogen Storage Disease Xii	Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Increased circulating lactate dehydrog...	OMIM:611881
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy	OMIM:160900
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Atopic dermatitis, Osteomyelitis, Pustule	ORPHA:171876
Postinfectious Vasculitis	Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Viral hepatitis, Membrano...	ORPHA:48435
Leptospirosis	Optic neuritis, Hepatomegaly, Skin rash, Hepatitis, Uveitis, Elevated serum transaminases during ...	ORPHA:509
Acute Liver Failure	Hepatocellular necrosis, Skin rash, Elevated hepatic transaminase, Hepatitis, Hepatic periportal ...	ORPHA:90062
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Gout, Jaundice	ORPHA:822
Occipital Horn Syndrome	Exostoses, Cholestasis, Hepatitis, Esophagitis, Jaundice	ORPHA:198
Gaucher Disease	Osteomyelitis, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Hepatitis	ORPHA:355
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated hepatic transaminase, Hepatic failure	OMIM:614886
Hereditary Elliptocytosis	Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice	ORPHA:288
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:603903
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Intestinal polyposis, Portal hypertens...	ORPHA:774
Triosephosphate Isomerase Deficiency	Cholelithiasis, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly	OMIM:619273
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice,...	ORPHA:3202
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Hepatomegaly, Elevated circulating alkaline phosphatase...	OMIM:618268
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Abnormal enzyme/coenzyme activity, Neoplasm of the ga...	ORPHA:512
Distal Trisomy 5Q	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Eczema	ORPHA:96097
X-Linked Lymphoproliferative Disease	Decreased liver function, Burkitt lymphoma, Colitis, B-cell lymphoma, Nephritis, Splenomegaly, He...	ORPHA:2442
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Cryptorchidism, Decreased testicular size	OMIM:300534
Lujo Hemorrhagic Fever	Skin rash, Maculopapular exanthema, Fulminant hepatitis, Myocarditis, Increased circulating lacta...	ORPHA:319213
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media	OMIM:301066
Lathosterolosis	Elevated circulating alkaline phosphatase concentration, Hepatosplenomegaly, Elevated hepatic tra...	OMIM:607330
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Hepa...	ORPHA:77293
Alström Syndrome	Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis media, Hyoplasia o...	ORPHA:64
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia	ORPHA:464738
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Splenomegaly	OMIM:263700
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Nephroblastoma, Medulloblastoma	ORPHA:97297
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Neoplasm, Cyst of the ductus choledochus, Hypoplastic nipples	ORPHA:480880
Steinert Myotonic Dystrophy	Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h...	ORPHA:273
Trisomy 8P	Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Neuroblastoma	ORPHA:264450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Bacterial endocarditis, Splenomegaly, Hepatosplenomegaly, Abnormality of the sple...	ORPHA:2072
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Ap...	ORPHA:2255
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypoparathyroidism, Splenomegaly, Hypoplasia of the thymus, Chronic otitis media,...	ORPHA:567
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal enzyme/coenzyme activity, Prolonged neonatal jaundice	ORPHA:909
Digeorge Syndrome	Hydrocele testis, Cholelithiasis, Recurrent otitis media, Splenomegaly, Ovarian cyst, Hypoplasia ...	OMIM:188400
Williams Syndrome	Cholelithiasis, Polycystic ovaries, Cryptorchidism, Chronic otitis media	ORPHA:904
Peters-Plus Syndrome	Cryptorchidism, Bilobate gallbladder, Biliary tract abnormality	OMIM:261540
Bile Acid Synthesis Defect, Congenital, 6		OMIM:617308

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 Acox2

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 Acox2.

No publications found that use IMPC mice or data for Acox2.

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MGI Allele	Allele Type	Produced
Acox2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Acox2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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