Not currently registered for phenotyping at IMPC

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

Gene Summary

acyl-Coenzyme A oxidase 2, branched chain

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Bile Acid Synthesis Defect, Congenital, 6

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
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
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
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
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
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


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
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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