Gene Summary

Name:
tyrosyl-DNA phosphodiesterase 1
Synonyms:
4921509N21Rik,  SCAN1,  2810481F14Rik,  E430034L06Rik,  Gm40556

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased red blood cell distribution width Tdp1em1(IMPC)Tcp HOM   Early adult 4.58×10-05
abnormal retina vasculature morphology Tdp1em1(IMPC)Tcp HOM   Early adult 8.77×10-05
decreased exploration in new environment Tdp1em1(IMPC)Tcp HOM Early adult 4.04×10-05
decreased mean corpuscular volume Tdp1em1(IMPC)Tcp HOM   Early adult 5.94×10-06
abnormal retina blood vessel morphology Tdp1em1(IMPC)Tcp HOM   Early adult 9.63×10-05
increased mean corpuscular hemoglobin concentration Tdp1em1(IMPC)Tcp HOM Early adult 8.73×10-05
enlarged lymph nodes Tdp1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

101 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Tdp1 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 Tdp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Cerebellar atrophy OMIM:607250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Cerebellar vermis atrophy, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124

The table below shows human diseases predicted to be associated to Tdp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,... OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Cerebellar atrophy OMIM:607250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Cerebellar vermis atrophy, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Galloway-Mowat Syndrome 8
Abnormal cerebellum morphology, Hypoalbuminemia OMIM:618349
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Depression, Cognitive impairment, Poi... OMIM:301310
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:618347
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cerebellar atrophy, Elevated circulating alpha-fetoprotein... OMIM:616267
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Hepatosplen... ORPHA:846
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Alg1-Cdg
Hypoalbuminemia, Cerebellar atrophy ORPHA:79327
Alg6-Cdg
Cerebellar hypoplasia, Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Hypoalbuminemia OMIM:618805
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Cerebellar atrophy, Elevated circulating creatine kinase c... OMIM:208920
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Dominant Beta-Thalassemia
Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Beta-Thalassemia
Irritability, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Cerebellar vermis atrophy, Elevated circulating creatine kinase concentration, Elevated circulati... ORPHA:64753
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Cerebellar atrophy OMIM:608776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocyt... OMIM:618278
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Normocytic anemia, Normochromic anemia, Retinal neovascularization, Memory impairme... ORPHA:247691
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit... ORPHA:101096
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Cerebellar hypoplasia, Cerebellar atrophy, Hyperalaninemia OMIM:618329
Leishmaniasis
Hypoalbuminemia ORPHA:507
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Galloway-Mowat Syndrome 3
Lissencephaly, Cerebellar atrophy, Simplified gyral pattern, Pachygyria, Hypoalbuminemia OMIM:617729
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar ... OMIM:212065
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu... OMIM:612840
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, Increased mean ... OMIM:617052
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Xfe Progeroid Syndrome
Hypoalbuminemia, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Galloway-Mowat Syndrome 1
Dandy-Walker malformation, Cerebellar atrophy, Abnormality of neuronal migration, Pachygyria, Hyp... OMIM:251300
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Cerebellar atrophy OMIM:254900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Pachygyria, Cerebellar hypoplasia, Hypocholesterolemia ORPHA:79324
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Acquired Methemoglobinemia
Confusion, Methemoglobinemia ORPHA:464453
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Pachygyria OMIM:235510
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... ORPHA:89842
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... OMIM:222470
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... ORPHA:2298
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Lead Poisoning
Abnormal T cell morphology, Anemia, Memory impairment, Depression, Cognitive impairment, Attentio... ORPHA:330015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Smith-Lemli-Opitz Syndrome
Chiari type I malformation, Dandy-Walker malformation, Cerebellar atrophy, Elevated circulating 7... OMIM:270400
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, High nonceru... OMIM:277900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin, Depression ORPHA:847
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227646
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Kawasaki Disease
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214
Pmm2-Cdg
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Reduced thyroxin-binding globulin, Cereb... ORPHA:79318
Alkaptonuria
Hemolytic anemia, Methemoglobinemia ORPHA:56

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 Tdp1

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 Tdp1.

No publications found that use IMPC mice or data for Tdp1.

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
Tdp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tdp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tdp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tdp1em1(IMPC)Tcp Exon Deletion Mice

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