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Gene: Tdg MGI:108247

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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:
thymine DNA glycosylase
Synonyms:
E130317C12Rik,  Jza1

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 Tdg 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 Tdg by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... OMIM:614702
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Endocardial fibroelastosis, Intrauterine... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia ORPHA:1296
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion OMIM:613885
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology, Abnormality ... ORPHA:1131
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Truncus arteriosus, Short neck, Short 5th finger, Clin... OMIM:615583
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... OMIM:620070
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... OMIM:618775
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... ORPHA:363705
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Increased m... ORPHA:565612
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... OMIM:619487
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,... ORPHA:77259
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodact... ORPHA:261330
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Patent ductus arteriosus, Pa... OMIM:227646
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Ankle flexion contracture, Tapered finger, Pulmonary artery st... ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Flexion contracture, Defective DNA rep... OMIM:278760
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... OMIM:602531
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Long finger... OMIM:614294
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Deficient excision of UV-ind... OMIM:600901
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Deficient excision of UV-ind... OMIM:227650
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy OMIM:212065
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tricuspid ... ORPHA:261337
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Deficie... OMIM:227645
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... ORPHA:508488
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... ORPHA:352665
Alg9-Cdg
Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp... ORPHA:79328
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Partial agenesis of the corpus callosum, ... ORPHA:33364
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Myocardial infarction OMIM:615812
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Mitral valve prolapse ORPHA:536532
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax... ORPHA:2136
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal left ventricular function, Premature ... ORPHA:391665
Oligomeganephronia
Branchial cyst, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydration, Hype... ORPHA:2260
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Oligoh... OMIM:615846
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Postnatal growth retardation, Short stature ORPHA:1272
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Hypertension, Ascites, Defective DNA repair after ultraviolet radi... OMIM:610965
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Birth length less than 3rd percen... OMIM:139210
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v... ORPHA:31150
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short distal phalanx of finger OMIM:609166
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Broad hallux, Facial palsy, Polyhydramnios, Prolonged neonatal jaund... OMIM:620186
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Cholecystitis, Ecchymosis, I... ORPHA:99827
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Telangiectasia OMIM:278740
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Lymphangioleiomyomatosis
Ascites, Chylothorax, Chylopericardium, Lymphedema ORPHA:538
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Corneal neovascularization, Telangiectasia OMIM:278730
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Telangiectasia OMIM:278720
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Telangiectasia OMIM:278700
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Partial dup... OMIM:164210
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Medial calcification... ORPHA:51608
De Sanctis-Cacchione Syndrome
Bilateral coxa valga, Defective DNA repair after ultraviolet radiation damage, Telangiectasia OMIM:278800
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Brachydactyly, Branchial anomaly, Short palm ORPHA:466950
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Williams-Beuren Syndrome
Hallux valgus, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Portal hyp... OMIM:194050
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... OMIM:613406
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Short neck, Short thumb, Preaxial hand polydactyly, El... OMIM:113620
Pmm2-Cdg
Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy ORPHA:79318
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... ORPHA:286
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Talipes equinovarus OMIM:601374

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 Tdg

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 Tdg.

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

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MGI Allele Allele Type Produced
Tdgtm44978(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tdgtm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells

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