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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Villous atrophy, Pancytopenia, Failure to thrive, Splenomegaly, Enterocolitis, Anemia, Reduced na... OMIM:616050
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia OMIM:613217
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-pos... OMIM:619510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... OMIM:304790
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... OMIM:614700
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Netherton Syndrome
Villous atrophy, Hypereosinophilia, Failure to thrive, Recurrent infection of the gastrointestina... OMIM:256500
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh... OMIM:602579
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... OMIM:614602
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Failure t... OMIM:557000
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... ORPHA:567983
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis OMIM:614328
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volu... ORPHA:84064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Failure to thrive, High palate, Bifid uvula OMIM:601110
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Malabsorption OMIM:600955
Chylomicron Retention Disease
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Small for gestational age, Increased mean platelet volume, Splenom... OMIM:222470
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... ORPHA:2070
Mirage Syndrome
Cryptorchidism, Esophageal stricture, Thrombocytopenia, Hypoplastic spleen, Leukopenia, Gastroeso... OMIM:617053
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Steatorrhea, Thrombocytosis, Failure to thrive, ... OMIM:212065
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia OMIM:602361
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... OMIM:600901
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... OMIM:227645
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of ... OMIM:227650
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Cryptorchidism, Esophageal atresia, Thrombocytopenia, Pr... OMIM:227646
Alg9-Cdg
Hepatomegaly, Villous atrophy, Periportal fibrosis, Hypoplasia of the ovary, Gastroesophageal ref... ORPHA:79328
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Gaisböck Syndrome
Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes... ORPHA:90041
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... ORPHA:51636
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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