Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ubiquitin protein ligase E3 component n-recognin 5
Synonyms:
Edd,  Edd1,  4432411E13Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ubr5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ubr5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Abnormality ... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Edema, Abnormal cardiac septum morphology, Short neck OMIM:608776
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Webbed neck, Edema, Cystic hygroma, Hydrocephalus OMIM:617822
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ventricular septal defect, Pericardial effusion, Delayed erupt... OMIM:235510
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly ORPHA:1131
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Growth delay, Ascites, Pulmonic stenosis, Pleural effusion, Hydrops fetalis ORPHA:2414
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Short stature, Edema, Low... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Cardiomegaly... OMIM:115197
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... ORPHA:555874
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Pleural effusion ORPHA:36412
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... ORPHA:292
Aicardi-Goutieres Syndrome 9
Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema, Left ventric... OMIM:619487
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Atrioventricul... ORPHA:453499
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Primary Intestinal Lymphangiectasia
Pericardial effusion, Growth delay, Ascites, Edema, Pleural effusion, Generalized edema ORPHA:90362
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Webbed neck, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Gaucher Disease Type 1
Growth delay, Pericardial effusion, Ascites, Abnormal myocardium morphology, Delayed puberty, Ped... ORPHA:77259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Pediatric Systemic Lupus Erythematosus
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:93552
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Short stature, Patent ductus arteriosus, Postnatal growth ret... ORPHA:1272
Craniofacial Microsomia
Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, Hydrocephalus, Tetralogy ... OMIM:164210
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Torticollis, Abnor... ORPHA:79328
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... ORPHA:26793
Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Branchial anomaly, Hydrocephalus, Tetralogy of Fall... ORPHA:2162
Poems Syndrome
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:2905
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Myhre Syndrome
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Short stature, ... OMIM:139210
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion OMIM:212065
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Gaucher Disease Type 3
Growth delay, Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, ... ORPHA:77261
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Patent ductu... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus, Growth delay, Sho... ORPHA:261330
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, P... ORPHA:781
Kaposiform Lymphangiomatosis
Abnormality of the neck, Pleural effusion, Pericardial effusion ORPHA:464329
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Abnormal myocardium morphology, Pericardial effusion ORPHA:300751
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pleural effusion, Pericardial effusion ORPHA:199241
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion OMIM:618183
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... ORPHA:352665
Hennekam Syndrome
Lymphedema, Mild postnatal growth retardation, Pericardial effusion, Ascites, Delayed eruption of... ORPHA:2136
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Chédiak-Higashi Syndrome
Edema, Pleural effusion, Pericardial effusion ORPHA:167
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Hydrocephalus, Chylothorax ORPHA:538
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion ORPHA:73224
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Crimean-Congo Hemorrhagic Fever
Myocarditis, Stiff neck, Pericardial effusion, Ascites ORPHA:99827
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Postnatal growth retardation, Low posterior h... OMIM:113620
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrophy, Edema, Cardiome... ORPHA:51608
Pmm2-Cdg
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Anasarca, Lymphedema ORPHA:79318

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 Ubr5

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 Ubr5.

No publications found that use IMPC mice or data for Ubr5.

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MGI Allele Allele Type Produced
Ubr5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ubr5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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