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Gene: Acox2 MGI:1934852

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Registered for phenotyping at IMPC

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

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.

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
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:617308

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... ORPHA:139507
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... OMIM:605479
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
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
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... OMIM:618329
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... ORPHA:521219
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... OMIM:261515
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczema, Decreased liver function, Cirrhosis ORPHA:79278
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili... OMIM:613610
Alpha-Thalassemia
Myelodysplasia, Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis ORPHA:846
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema OMIM:177000
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor... ORPHA:186
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... OMIM:269200
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... ORPHA:1414
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Bronchiectasis, Hepatitis... ORPHA:1163
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis OMIM:215600
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis ORPHA:292
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... ORPHA:549
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... OMIM:249000
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Biliary atresia ORPHA:565899
Spherocytosis, Type 1
Splenomegaly, Cholelithiasis, Jaundice OMIM:182900
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619534
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... ORPHA:100086
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Biliary cirrhosis, T... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c... ORPHA:227990
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... ORPHA:454836
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... OMIM:240300
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni... ORPHA:37042
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis OMIM:613385
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Chol... OMIM:266200
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Hepatit... ORPHA:3261
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Cutaneous myx... ORPHA:562
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Decreased response to grow... OMIM:203800
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphol... ORPHA:436252
Myasthenia Gravis
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis ORPHA:589
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly,... ORPHA:231226
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt lymphoma, Hepatic failure, Inf... OMIM:308240
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hepatit... ORPHA:1855
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... OMIM:277900
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Jaundice, Gout, Cholelithiasis, Elevat... OMIM:232800
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic... ORPHA:91139
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abnormality of the t... ORPHA:400
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chroni... ORPHA:83471
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma, Hypoplasia of the thymus, Interface hepa... OMIM:243150
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasi... OMIM:619991
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... ORPHA:100085
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule, Myocarditis, Peri... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Esophageal c... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia,... ORPHA:3260
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Hepatitis, Hashimo... ORPHA:199299
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... OMIM:615846
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic... ORPHA:289390
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, B-cell lymphoma, Pneumonia, Recurrent skin infections, Gastritis, Splen... OMIM:619381
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Jaundice, ... OMIM:611881
Generalized Pseudohypoaldosteronism Type 1
Pustule, Cholelithiasis, Osteomyelitis, Atopic dermatitis ORPHA:171876
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... ORPHA:509
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Cholelithiasis ORPHA:822
Occipital Horn Syndrome
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses ORPHA:198
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure OMIM:614886
Gaucher Disease
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis ORPHA:355
Hereditary Elliptocytosis
Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice ORPHA:288
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Portal vein thrombosis, Splenomegaly, ... ORPHA:3202
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Visceral angiomatosis, Cavernous hemangioma, Cholecystitis, Cirrhosis, Chole... ORPHA:774
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia... ORPHA:512
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... ORPHA:319213
Distal Duplication 5Q
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased testicular size, Cryptorchidism OMIM:300534
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Recurrent pa... OMIM:618268
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Porphyria, Congenital Erythropoietic
Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis OMIM:263700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis OMIM:301066
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... ORPHA:77293
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia ORPHA:464738
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Bohring-Opitz Syndrome
Cholelithiasis, Nephroblastoma, Medulloblastoma, Annular pancreas ORPHA:97297
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Neoplasm, Hypoplastic nipples ORPHA:480880
Trisomy 8P
Cryptorchidism, Neuroblastoma, Annular pancreas, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Decreas... ORPHA:273
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancre... ORPHA:2255
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating enzyme concentration or activity, Prolonged neonatal jaundice ORPHA:909
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacterial endocard... ORPHA:2072
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Acne, Seborrheic dermatitis, Splenomegaly, Cryptorchidism, Arthritis, Hypopla... ORPHA:567
Digeorge Syndrome
Acne, Parathyroid agenesis, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Parathyroid... OMIM:188400
Bile Acid Synthesis Defect, Congenital, 6
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:617308
Williams Syndrome
Chronic otitis media, Cholelithiasis, Cryptorchidism, Polycystic ovaries ORPHA:904

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Acox2em1(IMPC)Bay Exon Deletion Mice
Acox2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Acox2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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