Gene Summary

Name:
triggering receptor expressed on myeloid cells 1
Synonyms:
N/A

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 anti-nuclear antigen antibody level Trem1tm1(KOMP)Vlcg HOM Early adult 0.00

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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

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 93 images

Human diseases caused by Trem1 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 Trem1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... OMIM:619523
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Lymphopr... OMIM:614470
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia OMIM:616871
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Whim Syndrome 1
Verrucae, Neutropenia OMIM:193670
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Squamou... OMIM:618849
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... OMIM:308240
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Squamous cell carcinoma of the skin, Neutropenia OMIM:620443
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Neutropenia in presence ... OMIM:619220
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N... ORPHA:486
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia, Myelodysplasia OMIM:617475
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Immunodeficiency 110 With Lymphoproliferation
Verrucae, Lymphopenia, Autoimmune hemolytic anemia, Hodgkin lymphoma, Neutropenia, Lymphoprolifer... OMIM:614868
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu... ORPHA:2330
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
X-Linked Agammaglobulinemia
Neoplasm, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphoma, Lymphopen... ORPHA:443811
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Immunodeficiency 55
Lymphopenia, Myelodysplasia, Absent natural killer cells, Neutropenia OMIM:617827
Autosomal Agammaglobulinemia
Verrucae, Neutropenia ORPHA:33110
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Felty Syndrome
Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neoplasm of the skin, Neutropenia OMIM:616395
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Neutropenia OMIM:250940
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoma, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-... OMIM:614700
Propionic Acidemia
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:606054
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Aspergillosis
Eosinophilia, Hematological neoplasm, Neutropenia ORPHA:1163
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Cartilage-Hair Hypoplasia
Basal cell carcinoma, Lymphoma, Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformatio... OMIM:250250
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane... ORPHA:508542
Immunodeficiency 23
Lymphopenia, Abscess, Hodgkin lymphoma, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Non-Hodgkin lymphoma, Decreased proportion... ORPHA:1830
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Barth Syndrome
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia OMIM:302060
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Diamond-Blackfan Anemia 11
Neutropenia, Anemia of inadequate production OMIM:614900
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia OMIM:275350
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Hodgkin lymphoma, Eosinophilia, Neutropenia in p... OMIM:615952
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia OMIM:242900
Whim Syndrome
Verrucae, Cutaneous melanoma, Abnormal neutrophil morphology, Lymphopenia, Papilloma, Neutropenia... ORPHA:51636
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia OMIM:613990
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... ORPHA:906
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Lung ab... ORPHA:228119
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227645
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Wolcott-Rallison Syndrome
Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Rothmund-Thomson Syndrome
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... ORPHA:2909
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... ORPHA:221008
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Anemia, Squamous... ORPHA:221016
Mhc Class Ii Deficiency 1
Neutropenia OMIM:209920
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphoma, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil an... ORPHA:436159
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated re... OMIM:105650
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti... OMIM:613179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Neutropenia in presence of ant... ORPHA:37042
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Agammaglobulinemia, X-Linked
Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia, Hepatocellular carcinoma OMIM:300755
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Pneumocystosis
Abnormal neutrophil count, Neoplasm ORPHA:723
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227646
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutropenia ORPHA:79430
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia, Hepatocellular carcinoma OMIM:232220
Trichothiodystrophy
Anemia, Squamous cell carcinoma, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Selective Igm Deficiency
Decreased proportion of transitional B cells, Verrucae, Cutaneous abscess, Decreased proportion o... ORPHA:331235
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Vici Syndrome
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... OMIM:242840
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Cohen Syndrome
Neutropenia ORPHA:193
Revesz Syndrome
Macrocytic anemia, Aplastic anemia, Neutropenia OMIM:268130
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Sweet Syndrome
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas... ORPHA:3243
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Neutropenia OMIM:618460
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Glycogen Storage Disease Ic
Cyclic neutropenia, Hepatoblastoma, Hepatocellular carcinoma OMIM:232240
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Zygomycosis
Hematological neoplasm, Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Hepat... ORPHA:79259
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s... ORPHA:699
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Nephroblastoma ORPHA:500095
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Oropharyngeal... ORPHA:391487
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Nephroblastoma OMIM:617107
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple... ORPHA:228426
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Neutrophilia OMIM:260920
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Sponastrime Dysplasia
Neutropenia ORPHA:93357

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 Trem1

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 Trem1.

There are 13 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Radiation upregulates macrophage TREM-1 expression to exacerbate injury in mice. Frontiers in immunology (April 2023) Trem1tm1(KOMP)Vlcg PMC10164953
Extracellular CIRP induces acute kidney injury via endothelial TREM-1. Frontiers in physiology (September 2022) Trem1tm1a(KOMP)Wtsi PMC9558214
Inhibition of the Interaction of TREM-1 and eCIRP Attenuates Inflammation and Improves Survival in Hepatic Ischemia/Reperfusion. Shock (Augusta, Ga.) (February 2022) Trem1tm1(KOMP)Vlcg PMC8758526
Extracellular CIRP Induces Inflammation in Alveolar Type II Cells via TREM-1. Frontiers in cell and developmental biology (August 2020) Trem1tm1(KOMP)Vlcg PMC7484489
Extracellular CIRP and TREM-1 axis promotes ICAM-1-Rho-mediated NETosis in sepsis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (June 2020) Trem1tm1(KOMP)Vlcg PMC9092350
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Trem1tm1(KOMP)Vlcg PMC7263671
Extracellular CIRP as an endogenous TREM-1 ligand to fuel inflammation in sepsis. JCI insight (March 2020) Trem1tm1(KOMP)Vlcg PMC7141396
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Trem1tm1(KOMP)Vlcg PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Trem1tm1(KOMP)Vlcg