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Gene: Tdp2 MGI:1860486

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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:
tyrosyl-DNA phosphodiesterase 2
Synonyms:
Ttrap,  D13Ertd656e

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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 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
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
ORPHA:404493

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Pancytopenia, Villous atrophy, Splenomegaly... OMIM:616050
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Crypt hyperplasia OMIM:613217
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eo... OMIM:304790
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Failure to thrive, Abnormal natural killer cell mo... OMIM:615617
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Abnormal spleen phys... ORPHA:398063
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, Hepatosplenom... OMIM:606367
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Pancytopenia, Villous... OMIM:614700
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy, Failure to thrive OMIM:615863
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Immunodeficiency 31C
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... OMIM:614162
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Secondary Short Bowel Syndrome
Failure to thrive, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... ORPHA:95427
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Netherton Syndrome
Failure to thrive, Villous atrophy, Recurrent infection of the gastrointestinal tract, Hypereosin... OMIM:256500
Mhc Class Ii Deficiency 1
Failure to thrive, Villous atrophy, Biliary tract abnormality, Colitis, Neutropenia, Cholangitis,... OMIM:209920
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Splenomegaly, Villous atrophy, Failure to thrive OMIM:608776
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Cirrhosis, Lymp... OMIM:602579
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Increased int... OMIM:619377
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Trichohepatoenteric Syndrome 2
Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small fo... OMIM:614602
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... ORPHA:92050
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... ORPHA:567983
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis OMIM:614328
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, P... OMIM:557000
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Villous atrophy, Splenomegaly, Hypoplasi... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy, Failure to thrive OMIM:601110
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Cervical lymphadenopathy, Lymphopenia, Decreased C... OMIM:619573
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy, Autoimmune hem... ORPHA:391487
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Decreased proportion of CD8-p... OMIM:615607
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Failure to thrive OMIM:246700
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Bifid uvula, Failure to thrive, Cholestasis, Villous atrophy, Splenomegaly, Cir... OMIM:222470
Proprotein Convertase 1/3 Deficiency
Obesity, Villous atrophy OMIM:600955
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Decreased testicular size, Leukopenia, Cryptorchidism, Decr... OMIM:617053
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Failure to thrive, Villous atrophy, Hepatic steatosis, Thrombocytosis, Hepatome... OMIM:212065
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Cryptorchidism OMIM:616910
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Weight loss, Abnormality of... ORPHA:2070
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gracile Bone Dysplasia
Asplenia, Ankyloglossia, Hypoplastic spleen, Failure to thrive OMIM:602361
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Villous atrophy, Hepatic cysts, Hypopl... ORPHA:79328
Pearson Syndrome
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... ORPHA:699
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutro... OMIM:600901
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... OMIM:618223
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anem... OMIM:227645
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutro... OMIM:227650
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Prolonged G2 phase o... OMIM:227646
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m... ORPHA:51636
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
ORPHA:404493

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 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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