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Gene: Rnf139 MGI:1923091

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ring finger protein 139

Synonyms:

4930555P18Rik

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 Rnf139 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 Rnf139 (1 diseases)
Human diseases predicted to be associated with Rnf139 (221 diseases)

The table below shows human diseases associated to Rnf139 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Renal Cell Carcinoma, Nonpapillary			OMIM:144700

The table below shows human diseases predicted to be associated to Rnf139 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice	ORPHA:446
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis	OMIM:619111
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu...	OMIM:300635
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:232400
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepatosplenomegaly...	OMIM:619858
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Nephronophthisis 16	Patent ductus arteriosus, Periportal fibrosis, Cholestasis	OMIM:615382
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis	OMIM:616629
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta...	OMIM:611182
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestinal inflammation, Abnor...	ORPHA:186
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepatosplenomegaly,...	OMIM:606003
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis	OMIM:602579
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ...	ORPHA:829
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,...	OMIM:216360
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He...	ORPHA:541423
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami...	OMIM:300972
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ...	ORPHA:171
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Lichen Planopilaris	Hepatitis	ORPHA:525
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro...	OMIM:308230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Decreased liver function, Hepatomegaly	OMIM:238970
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st...	OMIM:201475
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In...	OMIM:615895
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Griscelli Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Hepatitis	ORPHA:381
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal...	OMIM:619487
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Dominant Beta-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hepatic fibrosis, C...	ORPHA:231226
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis	OMIM:215600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H...	ORPHA:228426
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Isolated Sedoheptulokinase Deficiency	Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension	ORPHA:440713
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit...	ORPHA:549
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Donohue Syndrome	Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis	OMIM:246200
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Infectious encephalitis	ORPHA:1163
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis	ORPHA:292
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat...	ORPHA:454836
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp...	ORPHA:1454
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni...	ORPHA:183675
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr...	ORPHA:48818
Bardet-Biedl Syndrome	Hepatic fibrosis	ORPHA:110
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis	OMIM:613385
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni...	ORPHA:37042
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,...	ORPHA:2552
Beta-Thalassemia Major	Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Hepatic fibrosis, Cirrho...	ORPHA:231214
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Argininosuccinic Aciduria	Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration	OMIM:207900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Myasthenia Gravis	Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis	ORPHA:589
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis	OMIM:212065
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia	OMIM:200995
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,...	OMIM:222470
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Recurre...	OMIM:203800
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit...	ORPHA:572
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Syndromic Diarrhea	Hepatomegaly, Gastritis, Splenomegaly, Patent ductus arteriosus, Abnormality of the liver, Coliti...	ORPHA:84064
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi...	ORPHA:227990
Mucopolysaccharidosis Type 7	Splenomegaly, Hepatitis	ORPHA:584
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, M...	OMIM:620005
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Biliary cirrhosis, Hepatitis, Chronic mucocutaneous candidiasi...	ORPHA:227982
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Cirrhosis, Portal hypertension	ORPHA:974
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure	ORPHA:415
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis	OMIM:308240
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Hepatic fibrosis, Cirrho...	ORPHA:14
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis	ORPHA:319251
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr...	ORPHA:83471
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Interface hepatitis, Psoriasiform dermatitis, Enterocolitis	OMIM:243150
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H...	ORPHA:73263
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis	ORPHA:562
Arima Syndrome	Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:243910
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib...	OMIM:218330
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy...	ORPHA:3261
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis...	ORPHA:436252
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Hepatosplenomegaly, Ente...	ORPHA:391487
Bardet-Biedl Syndrome 1	Biliary tract abnormality, Hepatic fibrosis	OMIM:209900
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis	ORPHA:91139
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis	OMIM:615273
Late-Onset Isolated Acth Deficiency	Hepatitis, Hashimoto thyroiditis	ORPHA:199299
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom...	ORPHA:3260
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie...	OMIM:619381
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hepatomegaly, Periportal fibrosis, Patent ductus arteriosus	OMIM:269860
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser...	ORPHA:509
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Cho...	ORPHA:99226
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Bacterial endocard...	ORPHA:2072
Gaucher Disease	Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis	ORPHA:355
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Hepatic cysts	ORPHA:79328
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Occipital Horn Syndrome	Esophagitis, Jaundice, Hepatitis, Cholestasis	ORPHA:198
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:243800
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit...	ORPHA:319213
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal...	ORPHA:64
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros...	ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Renal Cell Carcinoma, Nonpapillary		OMIM:144700

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 Rnf139

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 Rnf139.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
TRC8 downregulation contributes to the development of non-alcoholic steatohepatitis by exacerbating hepatic endoplasmic reticulum stress.	Biochimica et biophysica acta (August 2015)	Rnf139^{tm1(KOMP)Wtsi}	26319415

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
Rnf139^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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