Not currently registered for phenotyping at IMPC

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

Gene Summary

tyrosyl-DNA phosphodiesterase 2
D13Ertd656e,  Ttrap

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Tdp2 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.

The table below shows human diseases associated to Tdp2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

The table below shows human diseases predicted to be associated to Tdp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Villous atrophy, Abnormal intestine morphology OMIM:614162
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splen... OMIM:616050
Refractory Celiac Disease
Iron deficiency anemia, Microcytic anemia, Jejunitis, Villous atrophy, Increased proportion of HL... ORPHA:398063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Villous atrophy, Neutropenia, Lymp... OMIM:304790
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive OMIM:613217
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Abnormality of the small intestine, Malabsorption, Premature ... ORPHA:100025
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Autoi... OMIM:614700
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Hepatomegaly, Lymphangi... OMIM:602579
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Weight loss, C... ORPHA:95427
Netherton Syndrome
Villous atrophy, Hypereosinophilia, Failure to thrive, Abnormal intestine morphology, Intestinal ... OMIM:256500
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Neutropenia, Biliary tract abnormality, Colitis, Cholangitis, F... OMIM:209920
Mu-Heavy Chain Disease
Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Hepatitis, Small for gestational age, Failure ... OMIM:614602
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Villous atrophy, Biliary hyperplasia, Cholelithiasis, Hepatic fibro... ORPHA:567983
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Villous atrophy, Increased mean platelet volume, Colitis,... ORPHA:84064
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Failure to thrive OMIM:614328
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy, Failure to thrive OMIM:601110
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Weight loss, Anal atre... ORPHA:92050
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Obesity OMIM:600955
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Esophageal carcinoma, Lymphopenia, Vill... ORPHA:391487
Eosinophilic Gastroenteritis
Hematochezia, Leukocytosis, Abnormality of the gastrointestinal tract, Dysphagia, Steatorrhea, Pr... ORPHA:2070
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia OMIM:616744
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Failure to th... OMIM:211600
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Villous atrophy, Increased mean platelet volume, Cholestasis, Hepatic ... OMIM:222470
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Mirage Syndrome
Cryptorchidism, Lymphopenia, Gastroesophageal reflux, Achalasia, Esophageal stricture, Decreased ... OMIM:617053
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegaly, Intermittent jaundic... OMIM:601847
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Increased mean platelet volume, Intestinal pseudo-obstruction, Thrombocyt... OMIM:300048
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Protein-losing enteropathy, Thrombocytopenia, Cholestasis, Hepatomegaly, Failure ... OMIM:608104
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, F... OMIM:607765
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Cach... OMIM:175500
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabso... ORPHA:309108
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Fanconi Anemia, Complementation Group C
Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestati... OMIM:227645
Fanconi Anemia, Complementation Group E
Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestati... OMIM:600901
Gracile Bone Dysplasia
Ankyloglossia, Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Fanconi Anemia, Complementation Group A
Cryptorchidism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestati... OMIM:227650
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Neutropenia, Esophageal atresia, Reticulocytope... OMIM:227646
Pearson Syndrome
Median cleft lip and palate, Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytos... ORPHA:699
Oculoskeletodental Syndrome
Cryptorchidism, Macroglossia, Protein-losing enteropathy, Hepatomegaly, Small for gestational age... OMIM:618440
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Fat malabsorption, Periportal fibrosis, Hypopituitarism, Cholesta... ORPHA:30391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Protein-losing enteropathy, Hepatomegaly, Thyroid ly... OMIM:235255
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Whim Syndrome
Lymphadenitis, Lymphopenia, Neutropenia, Abnormality of the small intestine, Abnormality of neutr... ORPHA:51636
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Anemia, Intestinal polyp, Hama... ORPHA:2929
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Gastrointestinal hemorrhage, Pancreatic cysts, Peripor... ORPHA:731
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Protein-losing enteropathy, Hepatomegaly, Pulmonary ... ORPHA:1655
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Abnormal B cell morphology, Cleft palate, Hypoparathyroidism, Decreased response t... OMIM:618223
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss, Hematochezia ORPHA:103910
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Narrow palate, Pericardial lymphangiectasia, Protein-losing enteropathy, Rectal p... OMIM:235510
Tarp Syndrome
Cryptorchidism, Abnormal duodenum morphology, Tongue nodules, Extramedullary hematopoiesis, Gloss... ORPHA:2886
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Abnormal jejunum morphology ORPHA:449280
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Hemobilia, Abnormal g... ORPHA:512
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Cleft palate... OMIM:601776
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Fraser Syndrome 1
Cryptorchidism, Abnormality of the anus, Cleft palate, Abnormality of the small intestine, Abnorm... OMIM:219000
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Cryptorchidism, Hematochezia OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency


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 Tdp2

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 Tdp2.

No publications found that use IMPC mice or data for Tdp2.

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MGI Allele Allele Type Produced
Tdp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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