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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 (226 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	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly	OMIM:271500
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi...	OMIM:613313
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:369
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi...	ORPHA:60
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma...	OMIM:278000
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib...	OMIM:619111
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep...	OMIM:300635
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ...	OMIM:232400
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat...	OMIM:619858
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati...	OMIM:615207
Mpi-Cdg	Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentration or activity...	ORPHA:79319
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Nephronophthisis 16	Cholestasis, Periportal fibrosis, Patent ductus arteriosus	OMIM:615382
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis	OMIM:616629
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l...	OMIM:617093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg...	OMIM:606003
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate...	OMIM:615486
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:194380
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Cirrhosis	OMIM:602579
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni...	ORPHA:169160
Melioidosis	Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen...	ORPHA:31202
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E...	ORPHA:158061
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct...	OMIM:216360
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H...	ORPHA:186
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Recurrent cutaneous abscess formation, ...	ORPHA:47
Lichen Planopilaris	Hepatitis	ORPHA:525
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Decreased liver function	OMIM:238970
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv...	OMIM:269200
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C...	OMIM:209920
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep...	OMIM:308230
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira...	ORPHA:91138
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci...	OMIM:607330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Necrotizing entero...	OMIM:201475
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Griscelli Syndrome	Hepatomegaly, Jaundice, Hepatitis, Splenomegaly	ORPHA:381
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona...	OMIM:619377
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos...	ORPHA:228426
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan...	ORPHA:247585
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl...	ORPHA:829
Dominant Beta-Thalassemia	Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Chronic hepatitis, ...	ORPHA:231226
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po...	OMIM:619487
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis	ORPHA:1163
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit...	ORPHA:549
Isolated Sedoheptulokinase Deficiency	Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease	ORPHA:440713
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis	OMIM:304790
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis	ORPHA:292
Donohue Syndrome	Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia	OMIM:246200
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Cirrhosis	OMIM:609313
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Recurrent pneumo...	ORPHA:731
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:333
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly	OMIM:613385
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Conjunctivitis, Pa...	OMIM:620376
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:37042
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo...	ORPHA:36234
Beta-Thalassemia Major	Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Hepatomegaly, Jaund...	ORPHA:231214
Microsporidiosis	Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit...	ORPHA:2552
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hep...	OMIM:212065
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis	OMIM:207900
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis	ORPHA:589
Ebola Hemorrhagic Fever	Maculopapular exanthema, Acute pancreatitis, Hepatitis	ORPHA:319218
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis	OMIM:200995
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ...	OMIM:222470
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Hepatitis	ORPHA:1334
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Chronic...	ORPHA:572
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid...	OMIM:240300
Mucopolysaccharidosis Type 7	Splenomegaly, Hepatitis	ORPHA:584
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Gastritis, H...	ORPHA:84064
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Splenomegaly, Myositis, Hepa...	OMIM:620565
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227990
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc...	OMIM:620005
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Adams-Oliver Syndrome	Cirrhosis, Portal hypertension, Congenital hepatic fibrosis	ORPHA:974
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227982
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir...	ORPHA:14
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulminant hepatitis	OMIM:308240
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi...	ORPHA:83471
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa...	ORPHA:73263
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Psoriasiform dermatitis, Interface hepatitis, Enterocolitis	OMIM:243150
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Joubert Syndrome 1	Hepatic fibrosis	OMIM:213300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Wilson Disease	Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran...	OMIM:277900
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho...	OMIM:266920
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Splenomegaly, Chilblains, Hepatic st...	OMIM:615846
Mccune-Albright Syndrome	Cholestasis, Hepatocellular adenoma, Pancreatitis, Hepatitis	ORPHA:562
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat...	OMIM:218330
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Biliary tract abnormality	OMIM:209900
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch...	ORPHA:436252
Autoimmune Lymphoproliferative Syndrome	Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer...	ORPHA:3261
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration	OMIM:615273
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can...	ORPHA:391487
Late-Onset Isolated Acth Deficiency	Hashimoto thyroiditis, Hepatitis	ORPHA:199299
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit...	ORPHA:3260
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis	ORPHA:91139
Kawasaki Disease	Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Jaundice, Cheilitis,...	ORPHA:2331
Orofaciodigital Syndrome I	Hepatic fibrosis, Pancreatic cysts, Hepatic cysts	OMIM:311200
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis	OMIM:263520
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomegaly, Skin ra...	OMIM:619381
Leptospirosis	Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He...	ORPHA:509
Primary Sjögren Syndrome	Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M...	ORPHA:289390
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic ...	OMIM:203800
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Splenomegaly, Patent ductus arteriosus	OMIM:269860
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Cholestasis, Eleva...	OMIM:619534
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul...	ORPHA:99226
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Cirr...	ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Hepatic cysts	ORPHA:79328
Meckel Syndrome	Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C...	ORPHA:564
Occipital Horn Syndrome	Cholestasis, Jaundice, Esophagitis, Hepatitis	ORPHA:198
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Eleva...	ORPHA:64
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ...	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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