Gene: Trpm2 MGI:1351901

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Gene Summary

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

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.

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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
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... 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
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacterial... OMIM:613502
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent ... OMIM:612692
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormality of the pancreas, Elevated circulating C-reactive prote... ORPHA:54251
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos... ORPHA:319552
Immunodeficiency 51
Recurrent bronchitis, Cutaneous abscess, Chronic oral candidiasis, Recurrent Staphylococcus aureu... OMIM:613953
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality ORPHA:436151
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cirrhosis, Elevated hepatic transaminase, Leukocytosis... ORPHA:480520
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Decreased circulating IgE, Neutropenia, Decreased circulating Ig... OMIM:606843
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia, Agammaglobulinemia OMIM:615214
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... OMIM:607594
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B... OMIM:601495
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia, Recurrent ... OMIM:616873
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Increased circulating antibody... OMIM:202700
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Neutropenia, ... OMIM:193670
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Melioidosis
Lung abscess, Cutaneous abscess, Unusual skin infection, Splenic abscess, Abnormality of the sple... ORPHA:31202
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent viral infections, Re... OMIM:608957
Chronic Granulomatous Disease
Abnormality of neutrophils, Liver abscess, Hepatomegaly, Meningitis, Splenomegaly, Sepsis, Recurr... ORPHA:379
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Mental Retardation, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cells, Abnorma... ORPHA:276
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Liver abscess, Portal hypertension OMIM:600643
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptospori... ORPHA:572
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Hepatic cysts, Pancreatic cysts, Biliary ... ORPHA:284
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections OMIM:607624
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Elevated hepatic transaminase, Leukocytosis, Hypoalbuminemia, Liver abscess ORPHA:67
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... OMIM:619374
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Papillon-Lefèvre Syndrome
Chronic furunculosis, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Li... ORPHA:678
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmonary infections, Recu... OMIM:243700
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Re... OMIM:617475
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Recu... OMIM:616005
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Elevated hep... ORPHA:331206
Listeriosis
Peritonitis, Abscess, Abnormal cellular immune system morphology, Unusual skin infection, Splenic... ORPHA:533
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgM level, Decreased circulating IgE, Sclerosing cholangitis, Ne... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splenomegaly, Abnor... ORPHA:98848
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Recurrent viral infection... OMIM:603554
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hyperbilirubine... ORPHA:88673
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Pulmonary Arteriovenous Malformation
Recurrent abscess formation, Brain abscess, Liver abscess ORPHA:2038
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Panhypogammaglobulinemia, E... OMIM:307200
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus aureus inf... OMIM:147060
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Hemolytic anemia, Lymphadenitis, Impaired oxidative burst, Lymphopenia, Ulcerative colit... OMIM:618935
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly OMIM:607616
Brucellosis
Lung abscess, Increased circulating IgM level, Leukocytosis, Granuloma, Hepatomegaly, Abnormality... ORPHA:1304
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Spleno... OMIM:613470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, EEG abnormality OMIM:300801
Nocardiosis
Peritonitis, Cutaneous abscess, Unusual CNS infection, Severe infection, Meningitis, Encephalitis... ORPHA:31204
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Increased circulating IgA level,... OMIM:300291
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphocytosis, Decreased proportion of CD8-positive T cells, ... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Recurrent fungal infections, Chronic oral can... OMIM:606367
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Nephrosialidosis
Bone-marrow foam cells OMIM:256150
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Splenomegaly, Sepsis, Hepatosplenomegaly, Recurrent bacterial infections OMIM:612840
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Increased circulating guanosine concentration, Recurrent uppe... OMIM:613179
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Hepatomegaly, Meningitis, Splenomegaly, ... ORPHA:169090
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
Severe B lymphocytopenia, Increased circulating IgE level, Recurrent fungal infections, Lymphopen... OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Aplastic anemia, Splenomegaly OMIM:300635
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Recurrent viral infections, Neutropenia, Recurrent sinopulmon... ORPHA:486
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Leukocytosis, Rectal abscess, Recurrent bacterial infections... OMIM:116920
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Recurrent staphylococcal infect... OMIM:615816
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Periodontit... OMIM:214500
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Impulsivity, Aggressive behavior ORPHA:101039
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Skin rash, Hemophagocytosis, Increased circulating ferr... ORPHA:167
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Cystic Echinococcosis
Invasive parasitic infection, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, I... ORPHA:400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Dopa-Responsive Dystonia
Depression, Abnormal social behavior, Agoraphobia, Emotional lability, Panic attack, Irritability... ORPHA:255
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Aplastic anemia, Splenomega... OMIM:615122
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, EEG with spike-wave complexes (2.... ORPHA:64280
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Maculopapular exanthema, Pan... ORPHA:98850
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased specific antibody response to va... ORPHA:221139
Vici Syndrome
Recurrent fungal infections, Decreased proportion of CD4-positive helper T cells, Decreased circu... OMIM:242840
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Recurrent bacterial infections OMIM:244460
Whim Syndrome
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Lymphopenia, ... ORPHA:51636
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Monocytosis, Lymphopenia, Neutropenia, Hepatomegaly, Splenomegaly, Leukopenia, Recurrent bacteria... OMIM:612541
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatocellular carcinoma, Neutropenia, Hyperuricemia, Hepatomegaly... OMIM:232220
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Neutropenia, Hepatomegaly,... OMIM:608233
Mirage Syndrome
Lymphopenia, Recurrent urinary tract infections, Hyponatremia, Leukopenia, Recurrent bacterial in... OMIM:617053
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Recurrent bacterial infections OMIM:241410
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Recurre... OMIM:248500
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Recurrent bacterial infections OMIM:603585
Sickle Cell Anemia
Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Recurrent bacterial infections OMIM:603903
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Abnormal social behavior ORPHA:444002
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis OMIM:607665
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Meningitis, Splenomegaly, Recurrent bacterial infections ORPHA:36412
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology ORPHA:353
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hypoamylasemia, Chronic neutrop... ORPHA:811
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Wolman Disease
Bone-marrow foam cells, Anemia, Splenomegaly ORPHA:75233
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:292
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased serum interferon-gamma level, Abnormality of interleukin... ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Anemia, Sp... ORPHA:540
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Splenomegaly OMIM:256550
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Thrombocytopenia, Splenomegaly, Leukopenia, Anemi... OMIM:278000
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Microcytic anemia OMIM:257200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Chroni... ORPHA:79259
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Severe viral infection, Leukocytosis, Hyponatremia, Severe infection, Meningitis, I... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Hepatosplenom... OMIM:603553
Chromomycosis
Recurrent bacterial infections ORPHA:182
Primary Ciliary Dyskinesia
Recurrent otitis media, Polysplenia, Recurrent sinopulmonary infections, Asplenia, Recurrent myco... ORPHA:244
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells,... ORPHA:101096
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Disinhibition ORPHA:1020
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Panniculitis, Impaired neutrophil chemotaxis, Abnormal T ce... ORPHA:3132
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly OMIM:257220
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Decreased nerve conduction velocity, Emotional lability ORPHA:309256
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Decreased nerve conduction velocity, Emotional lability ORPHA:309263
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly OMIM:607625
Mastocytosis
Acute leukemia, Mastocytosis, Chronic leukemia, Splenomegaly ORPHA:98292
48,Xxxy Syndrome
Abnormal social behavior, Irritability, Anxiety, Abnormal aggressive, impulsive or violent behavior ORPHA:96263
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:267700
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227990
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Depression, Decreased nerve conduction velocity, Emotional lability ORPHA:309271
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227982
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Multifocal epileptiform discharges, EEG abnormality, Irritability, Abno... ORPHA:1675
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Exocrine pancreatic ... ORPHA:1333
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
H Syndrome
Histiocytosis, Hepatosplenomegaly, Microcytic anemia ORPHA:168569
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Head-banging, Anxiety, Happ... ORPHA:177907
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Rectal abscess, Recurrent abscess formation, Hepatitis, Abnormality of the du... ORPHA:436252
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:222700
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Anemia, Hypersplenism, Hepatosplenomegaly ORPHA:275761
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatosplenomegaly, Splenomegaly OMIM:602782
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Abnormal social... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, Abnormal social... ORPHA:363958
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Niemann-Pick Disease Type C
Bipolar affective disorder, Disinhibition, Aggressive behavior, Depression, Apathy, Abnormal soci... ORPHA:646
Mend Syndrome
Abnormal social behavior, Abnormal auditory evoked potentials, Aggressive behavior ORPHA:401973
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior ORPHA:314647
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Abscess, Recurrent Staphylococcus aureus infections ORPHA:642
Granulomatosis With Polyangiitis
Granulomatosis ORPHA:900
Williams Syndrome
Overfriendliness, Abnormal social behavior, Anxiety, Depression ORPHA:904
Pmm2-Cdg
Pericarditis, Impaired neutrophil chemotaxis, Aspiration pneumonia, Hypoalbuminemia, Reduced thyr... 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
Trpm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trpm2em1(IMPC)H Exon Deletion Mice
Trpm2em2(IMPC)H Exon Deletion Mice
Trpm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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