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
Ttrap,  D13Ertd656e

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, Villous atrophy, Lymphopenia, Abnormal intestine morphology OMIM:614162
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocyt... OMIM:616050
Refractory Celiac Disease
Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macrocytic anemia, Iro... ORPHA:398063
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytop... OMIM:304790
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Small for gestational age OMIM:613217
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Vil... OMIM:606367
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Lymphadeno... ORPHA:100025
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Colitis, Splenomegaly, Autoimmune thrombocytopenia, Inflammation of the large ... OMIM:614700
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Anemia, Increased stool alpha1-antitrypsin concentration, Abnor... ORPHA:90362
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Villous atrophy, Protein-losing enteropathy OMIM:615863
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Netherton Syndrome
Failure to thrive, Intestinal atresia, Villous atrophy, Hypereosinophilia, Abnormal intestine mor... OMIM:256500
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... OMIM:209920
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Cirrhosis, Villous atrophy, Protein-losing enteropa... OMIM:602579
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Osteootohepatoenteric Syndrome
Failure to thrive, Microvesicular hepatic steatosis, Anemia, Ileoileal intussusception, Cholestas... OMIM:619377
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... OMIM:614602
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Malabsorption, Neutropenia, Sideroblastic anemia, Exocrine... OMIM:557000
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Villous atrophy... ORPHA:567983
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Syndromic Diarrhea
Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Small for gestational age, Splenomegaly, Hepatom... ORPHA:84064
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy, Failure to thrive OMIM:614328
Congenital Disorder Of Glycosylation, Type Id
High palate, Failure to thrive, Villous atrophy, Bifid uvula OMIM:601110
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Lymphopenia, Cleft palate, Small for gestational age, Necroti... OMIM:619573
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Enterocolitis, Hepatosplenomeg... ORPHA:391487
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Anemia, Eosinophilia, Abnormality of the gastrointestin... ORPHA:2070
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Splenomegaly, Anemia,... OMIM:619381
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Malabsorption OMIM:600955
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-posi... OMIM:615607
Trichohepatoenteric Syndrome 1
Failure to thrive, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Bifid uvula,... OMIM:222470
Mirage Syndrome
Decreased body weight, Gastroesophageal reflux, Lymphopenia, Cryptorchidism, Leukopenia, Esophage... OMIM:617053
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Steatorrhea, Thrombocytosis, Villous atrophy, Hepatic fibrosis, ... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic ... OMIM:601847
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstr... OMIM:300048
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Intr... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaun... OMIM:211600
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Hypoplastic spleen, Asplenia OMIM:602361
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... OMIM:175500
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis,... OMIM:615237
Fanconi Anemia, Complementation Group E
Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... OMIM:600901
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... OMIM:227645
Fanconi Anemia, Complementation Group A
Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Prolonged G2 phase of c... OMIM:227650
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Small for gestational age, Tracheoesophageal fistu... OMIM:227646
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Hepatomegaly, Cryptorchidism, Cholestasis, Protein-losing enteropathy, Anemia,... OMIM:608104
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Hypoplasia of the ovary, Gastroesophageal reflux, Periportal fibrosis, Hepatomegaly, Bifid uvula,... ORPHA:79328
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... ORPHA:699
Oculoskeletodental Syndrome
Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Protein-losing enteropathy, ... OMIM:618440
Failure to thrive, Hepatomegaly, Protein-losing enteropathy, Hepatic fibrosis, Portal hypertensio... ORPHA:79319
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonary lymphangiectasia, Protein-losing... OMIM:235255
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Whim Syndrome
Lymphopenia, Lymphadenitis, Abnormality of the small intestine, Neutropenia, Parotitis, Abnormali... ORPHA:51636
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Narrow palate, Decreased response to growth hormone stimulation test, Cleft p... OMIM:618223
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Protein-losing enteropathy, Hematochezia ORPHA:103910
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatomegaly, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly, Protein-... ORPHA:1655
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Abnorm... ORPHA:731
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... OMIM:265380
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic ... OMIM:619991
Fraser Syndrome 1
Cleft palate, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the a... OMIM:219000
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
Tdp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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