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Gene: Ubr5 MGI:1918040

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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

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 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
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P... ORPHA:60041
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Meckel Syndrome, Type 8
Pericardial effusion, Short neck, Occipital encephalocele, Encephalocele OMIM:613885
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Abnormality ... ORPHA:1041
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Growth delay, Chylopericardium, Pulmonic stenosis ORPHA:2414
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, Pleur... OMIM:235510
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Disorder Of Glycosylation, Type Il
Ascites, Short neck, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr... ORPHA:363705
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Atrial septal defect, Short stature... OMIM:620070
Alkuraya-Kucinskas Syndrome
Webbed neck, Pleural effusion, Hydrocephalus, Pericardial effusion, Cystic hygroma, Edema OMIM:617822
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion ORPHA:36412
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... ORPHA:292
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Biventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Periph... OMIM:261740
Aicardi-Goutieres Syndrome 9
Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pericardial effusion, Ede... OMIM:619487
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s... OMIM:618775
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Pediatric Systemic Lupus Erythematosus
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:93552
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Webbed neck, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Pericardial effusion, Patent ductus a... ORPHA:1272
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Pericarditis OMIM:212065
Alg9-Cdg
Rhizomelia, Thickened nuchal skin fold, Abnormal heart morphology, Oligohydramnios, Ventricular s... ORPHA:79328
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe... ORPHA:26793
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... ORPHA:261330
Bor Syndrome
Branchial cyst ORPHA:107
Poems Syndrome
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:2905
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Birth length l... OMIM:139210
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... ORPHA:261337
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion, Abnormality of the neck ORPHA:464329
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Dehydration ORPHA:2260
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Lymphedema, Ascites, Mild postnatal growth retardation, P... ORPHA:2136
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema ORPHA:199241
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pericardial effusi... OMIM:615846
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... ORPHA:508488
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Intrauterine growth retardation, Polyhydramnios, Patent foramen oval... OMIM:620186
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion ORPHA:73224
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Crimean-Congo Hemorrhagic Fever
Ascites, Pericardial effusion, Stiff neck, Myocarditis ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiomegaly, Polyhydramnios, Hydrops fet... ORPHA:51608
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Polyhydramnios, Short stature, Growth delay OMIM:613406
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis 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.

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

Title Journal IMPC Allele PubMed ID
Use of a Conditional Ubr5 Mutant Allele to Investigate the Role of an N-End Rule Ubiquitin-Protein Ligase in Hedgehog Signalling and Embryonic Limb Development. PloS one (June 2016) Ubr5tm1a(EUCOMM)Wtsi PMC4907512

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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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