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Gene: Btc MGI:99439

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Gene Summary

Name:
betacellulin, epidermal growth factor family member
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal lymph node morphology Btcem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Btcem1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Btcem1(IMPC)Mbp HOM Early adult 2.81×10-06

Download data as:  TSV  XLS

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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

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

108 Images

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Human diseases caused by Btc 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 Btc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis OMIM:618852
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Mu-Heavy Chain Disease
Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Immunodeficiency 7
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu... OMIM:612840
Indolent Systemic Mastocytosis
Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m... ORPHA:98848
Alpha-Heavy Chain Disease
Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o... OMIM:615559
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy... OMIM:301078
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ... OMIM:603909
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic... OMIM:619375
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Griscelli Syndrome Type 2
Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Abnormal T cell ... OMIM:308240
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt... ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Abnormal T cell count OMIM:240500
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased p... OMIM:613011
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom... OMIM:618935
Leishmaniasis
Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ... ORPHA:507
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegaly, Splenomegaly OMIM:615122
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, He... ORPHA:98850
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hemolytic anemia ORPHA:56425
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Primary Myelofibrosis
Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis... ORPHA:824
Mycosis Fungoides
Lymphadenopathy OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervical lymphadenop... OMIM:614034
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto... ORPHA:100026
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Omenn Syndrome
Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Griscelli Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Abnorma... ORPHA:381
Tafro Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:457077
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thrombocytopenia, ... ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia OMIM:257200
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abnormality... ORPHA:1451
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:83469
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Felty Syndrome
Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Thrombocyto... ORPHA:47612
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b... OMIM:233710
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Splenomegaly, Impaired neutrophil bacteric... OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b... OMIM:233690
Adult-Onset Still Disease
Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, G... ORPHA:829
Castleman Disease
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Thrombocytopenia, Decreased mean corpuscula... ORPHA:160
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Abnormal lymphocyte count, Splenomegaly, Autoimmune... OMIM:612783
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Nephroblastoma
Lymphadenopathy ORPHA:654
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutropil antibodie... ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Papa Syndrome
Lymphadenopathy ORPHA:69126
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:540
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Lig4 Syndrome
Acute leukemia, Lymphadenopathy, Leukocytosis, Pancytopenia ORPHA:99812
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti... OMIM:308230
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenome... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:267700
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Lymphadenopathy ORPHA:139402
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomegaly, Impaired ... OMIM:306400
Kikuchi-Fujimoto Disease
Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia, Splenomegaly,... ORPHA:50918
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut... ORPHA:3261
Hereditary Amyloidosis With Primary Renal Involvement
Lymphadenopathy, Abnormal lymph node morphology, Hepatosplenomegaly, Anemia ORPHA:85450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Lymphadenopathy, Lymphadenitis, Leukocytosis, Splenomegaly OMIM:615895
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:809
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:549
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia ORPHA:93552
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... ORPHA:2035
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Waldenström Macroglobulinemia
Normocytic anemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, Leukopenia, Spl... OMIM:615688
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly... ORPHA:83471
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Mediastinal lymphadenopathy, Leukocytosis OMIM:620233
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Poems Syndrome
Lymphadenopathy, Polycythemia, Thrombocytosis, Splenomegaly ORPHA:2905
Neuroblastoma
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:635
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Immunodeficiency 31C
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphade... OMIM:614162
Farber Disease
Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
H Syndrome
Lymphadenopathy, Histiocytosis, Microcytic anemia, Hepatosplenomegaly ORPHA:168569
Familial Pancreatic Carcinoma
Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Q Fever
Anemia, Lymphadenopathy, Granuloma, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Histiocytosis, Cervical lymphadenopathy OMIM:602782
Congenital Syphilis
Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:499009
Idiopathic Hypereosinophilic Syndrome
Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hep... ORPHA:3260
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia OMIM:619418
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Brucellosis
Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Leukocytosis, Granuloma, Leukopenia, Spleno... ORPHA:1304
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:32960
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Granuloma, Abnormality of the spleen, Eosinophilia,... ORPHA:228123
Cherubism
Submandibular lymph node enlargement OMIM:118400
Igg4-Related Submandibular Gland Disease
Eosinophilia, Lymphadenopathy ORPHA:449432
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Familial Mediterranean Fever
Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Familial Mediterranean Fever
Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia ORPHA:100078
Sarcoidosis
Anemia, Lymphadenopathy, Abnormal lymph node morphology, Increased T cell count, Leukopenia, Thro... ORPHA:797
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Marburg Hemorrhagic Fever
Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticuloc... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Lymphadenopathy, Normochromic anemia, Decreased proportion of CD4-positive hel... ORPHA:289390
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia ORPHA:536
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytop... ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Anemia, Splenomegaly ORPHA:667
Igg4-Related Kidney Disease
Lymphadenitis, Eosinophilia, Lymphadenopathy ORPHA:449395
Igg4-Related Ophthalmic Disease
Eosinophilia, Lymphadenopathy ORPHA:449563
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Lymphadenopathy ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Neoplasm of the thymus, Leukocytosis,... ORPHA:99889
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Microcytic anemia, Thrombocytopenia, Splenomegaly OMIM:256040
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Blau Syndrome
Lymphadenopathy, Anemia, Splenomegaly ORPHA:90340
Leptospirosis
Thrombocytopenia, Lymphadenopathy ORPHA:509
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385

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 Btc

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 Btc.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Btcem1(IMPC)Mbp Exon Deletion Mice, Tissue
Btctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Btctm368640(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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