Gene Summary

Name:
transient receptor potential cation channel, subfamily M, member 2
Synonyms:
9830168K16Rik,  LTRPC2,  Trrp7,  TRPC7

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 circulating alanine transaminase level Trpm2em1(IMPC)H HOM Early adult 2.50×10-05

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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.

Phenotype associated images not available

Human diseases caused by Trpm2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trpm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233710
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233690
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein concentration,... ORPHA:54251
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Disseminated nontuberculous mycobacterial infecti... ORPHA:319552
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:306400
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Decreased circulat... ORPHA:169079
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Caroli Syndrome
Hepatic failure, Leukopenia, Portal hypertension, Leukocytosis, Cholangitis, Cholangiocarcinoma, ... ORPHA:480520
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Acute ly... OMIM:616873
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Congenital agranulocytosis, Recurrent bacterial infections, Increased ... OMIM:202700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Melioidosis
Unusual skin infection, Lung abscess, Cutaneous abscess, Splenic abscess, Hepatitis, Sepsis, Abno... ORPHA:31202
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Meningitis, Abnormality of neutrophils, Recurrent respiratory infecti... ORPHA:379
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Caroli Disease, Isolated
Liver abscess, Portal hypertension, Hepatomegaly, Cholangitis OMIM:600643
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sclerosing cholangitis, Recurrent ... ORPHA:572
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Cutaneous ab... ORPHA:284
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Periodontitis, Neutrophilia OMIM:266265
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Elevated hepatic transaminase, Hypoalbuminemia, Liver abscess ORPHA:67
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Chronic furunculosis, Recurrent cutaneous abscess formation, Li... ORPHA:678
Complement Factor B Deficiency
Peritonitis, Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Recurrent res... OMIM:616005
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Eosinophilia, Cutaneous abscess,... OMIM:147060
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Eosinophilia, Decreased proport... ORPHA:331206
Listeriosis
Hepatic granulomatosis, Unusual skin infection, Infectious encephalitis, Cholecystitis, Peritonit... ORPHA:533
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Hyponatremia, Portal hypertension, Hypercalcemia, Hepatome... ORPHA:88673
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Cirrhosis, In... OMIM:308230
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... ORPHA:98848
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Recurrent viral infections, Recurrent bacterial infections, Spleno... OMIM:603554
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Pulmonary Arteriovenous Malformation
Recurrent abscess formation, Brain abscess, Liver abscess ORPHA:2038
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, T lymphocytopenia, Severe infec... ORPHA:83471
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia OMIM:619693
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Brucellosis
Abnormality of the liver, Increased circulating IgG level, Leukopenia, Leukocytosis, Increased ci... ORPHA:1304
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Recurrent urinary tract infection... ORPHA:331235
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholecystitis, Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic ... OMIM:613470
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Parti... OMIM:618986
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Shyness OMIM:300801
Nocardiosis
Severe infection, Cutaneous abscess, Infectious encephalitis, Peritonitis, Meningitis, Sepsis, Li... ORPHA:31204
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Recurrent mycobacterial infections,... ORPHA:911
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Recurrent viral infections, Decreased proportion of CD4+CD... OMIM:606367
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgM level, Dysgammaglobulinemia, Increased circulating IgA level, Severe cy... OMIM:300291
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, S... ORPHA:169090
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Sepsis OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent bacterial inf... OMIM:613179
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis OMIM:230600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Eosinophilia, Recurrent viral infections, R... OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Aplastic anemia OMIM:300635
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Sepsis,... OMIM:617475
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Recurrent ear infections, Recurrent viral infections, Leukemia, Recurr... ORPHA:486
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Eosinophilia, Increased circulating IgG level, Increa... OMIM:615816
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Splenomegaly, Neutropenia... OMIM:214500
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Abnormal platelet fu... ORPHA:167
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Unusual infection, Biliary tract obstruction, Hepatome... ORPHA:400
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Maculopa... ORPHA:98850
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Panic attack, Emotional lability, Irritability, Depression, Ag... ORPHA:255
Childhood Absence Epilepsy
Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz), Anxiety, Low self esteem, D... ORPHA:64280
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody ... OMIM:615122
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Abnormality of neutrophil physiology, Otitis media, Con... ORPHA:2968
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Viral hepatitis, Severe Epstein Barr virus infection,... ORPHA:48435
Vici Syndrome
Decreased circulating IgG level, Recurrent viral infections, Recurrent bacterial infections, Decr... OMIM:242840
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Glycogen Storage Disease Ib
Hyperlipidemia, Recurrent bacterial infections, Hepatomegaly, Hyperuricemia, Neutropenia, Elevate... OMIM:232220
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:619573
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Neutropenia,... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Recurrent bacterial infections OMIM:603585
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Recurrent bacterial infections OMIM:244460
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Hyperammonemia, Decreased HDL cholesterol concentration, Increased... ORPHA:470
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Recurrent bacterial infections OMIM:241410
Sickle Cell Anemia
Cholelithiasis, Leukocytosis, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia ORPHA:158029
Mirage Syndrome
Hypoplastic spleen, Hyponatremia, Leukopenia, Hyperkalemia, Recurrent bacterial infections, Recur... OMIM:617053
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Decreased cir... OMIM:248500
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Dec... OMIM:608233
Griscelli Syndrome Type 2
Pancytopenia, Neutropenia, Splenomegaly, Hemophagocytosis ORPHA:79477
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Meningitis ORPHA:36412
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis OMIM:607665
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology ORPHA:353
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Elevated ... ORPHA:542323
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Leukopenia, Increased serum bile acid concentration, Recurrent... ORPHA:811
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Splenomegaly, Decreased circulating antib... ORPHA:540
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Recurrent bacterial... ORPHA:79259
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Hyponatremia, Leukocytosis, Severe infection, ... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Niemann-Pick Disease, Type A
Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:257200
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Asplenia, Recurrent sinopulmonary inf... ORPHA:244
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Aregenerative Anemia
Neutropenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-posi... ORPHA:101096
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309256
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia ... ORPHA:3132
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309263
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior ORPHA:1020
Mastocytosis
Chronic leukemia, Mastocytosis, Splenomegaly, Acute leukemia ORPHA:98292
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:267700
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:257220
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:607625
48,Xxxy Syndrome
Abnormal aggressive, impulsive or violent behavior, Irritability, Anxiety, Abnormal social behavior ORPHA:96263
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Depression, Decreased nerve conduction velocity, Abnormal social behavior ORPHA:309271
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227990
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Dihydropyrimidine Dehydrogenase Deficiency
EEG abnormality, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Ir... ORPHA:1675
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:227982
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac death, Myocardial ... ORPHA:391665
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis ORPHA:168569
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Combined Immunodeficiency-Enteropathy Spectrum
Recurrent abscess formation, Rectal abscess, Abnormality of the ductus choledochus, Hepatitis, Pe... ORPHA:436252
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Abnormal social behavior, Anxiety, Head-banging, Sk... ORPHA:177907
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:222700
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Histiocytosis OMIM:602782
Tuberous Sclerosis Complex
Abnormal social behavior, Self-injurious behavior, Anxiety, Aggressive behavior, Depression, Impu... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
EEG with focal epileptiform discharges, EEG abnormality, Interictal epileptiform activity, Abnorm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
EEG with focal epileptiform discharges, EEG abnormality, Interictal epileptiform activity, Abnorm... ORPHA:363958
Niemann-Pick Disease Type C
Low frustration tolerance, Abnormal social behavior, Disinhibition, Aggressive behavior, Apathy, ... ORPHA:646
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent infections, Recurrent bacterial infections ORPHA:2273
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Abnormal social behavior ORPHA:401973
Granulomatosis With Polyangiitis
Granulomatosis ORPHA:900
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior ORPHA:314647
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Abscess, Tooth abscess ORPHA:642
Williams Syndrome
Anxiety, Depression, Overfriendliness, Abnormal social behavior ORPHA:904
Pmm2-Cdg
Impaired neutrophil chemotaxis, Hypoalbuminemia, Pericarditis, Reduced thyroxin-binding globulin,... ORPHA:79318

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 Trpm2

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 Trpm2.

No publications found that use IMPC mice or data for Trpm2.

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MGI Allele Allele Type Produced
Trpm2em2(IMPC)H Exon Deletion Mice
Trpm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Trpm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trpm2em1(IMPC)H Exon Deletion Mice

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