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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
increased neutrophil cell number Btcem1(IMPC)Mbp HOM Early adult 3.86×10-06
abnormal lymph node morphology Btcem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Btcem1(IMPC)Mbp HOM Early adult 0.00

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 Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 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
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Splenomegaly ORPHA:66661
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Microcytic anemia, Recurrent tonsillitis, Splenomegaly OMIM:618852
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular hyperplasia, He... OMIM:614470
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:603552
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mu-Heavy Chain Disease
Anemia, Lymphadenopathy, Abnormal B cell count, Splenomegaly ORPHA:100024
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C... OMIM:300853
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph nodes, Hepatos... OMIM:612840
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel... ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymphocytopenia, Absent ... ORPHA:277
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Decreased ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:615559
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... OMIM:301078
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Griscelli Syndrome Type 2
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy ORPHA:79477
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... ORPHA:3226
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:911
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:618495
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Tularemia
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Anemia, Cervical lymphadenopathy, Brain... ORPHA:3392
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... OMIM:618935
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia,... ORPHA:507
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Lymphoproliferative Syndrome 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, Lymphadenopathy OMIM:615122
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Cyclic neutropenia, Perianal absces... ORPHA:2686
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Thrombocytosis, Lym... OMIM:614034
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... ORPHA:824
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop... OMIM:613179
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:858
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Lymphadenopathy OMIM:619644
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, Lymphadenopathy ORPHA:39041
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Rhabdoid Tumor
Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:69077
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Leukocytosis OMIM:617099
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Griscelli Syndrome
Splenomegaly, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Thrombocytopen... ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... OMIM:618048
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Lymphadenopathy OMIM:257200
Cinca Syndrome
Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrophils, Anemia, ... ORPHA:1451
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Splenomegaly OMIM:616651
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Bone marrow hypocellularity, Anemia, T... ORPHA:47612
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:616100
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity ORPHA:829
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233710
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ... OMIM:600802
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:520
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233690
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut... OMIM:606367
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy OMIM:619750
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphadenopathy, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Generalized lymphadenopathy, Decrea... OMIM:614700
Nephroblastoma
Lymphadenopathy ORPHA:654
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Cervical lymphadenopathy, Enlarged ... ORPHA:2442
Castleman Disease
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Generaliz... ORPHA:160
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:540
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Lig4 Syndrome
Lymphadenopathy, Acute leukemia, Leukocytosis, Pancytopenia ORPHA:99812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancytopenia, Abnor... ORPHA:79124
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center, Hemolytic anemia, Neutrope... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:617591
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Agammaglobulinemia, X-Linked
B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia OMIM:300755
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... OMIM:603553
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:267700
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Leukopenia... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Splenomegaly, Lymphadenitis, Granulomatosis, Rectal abscess, Granuloma,... OMIM:306400
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... OMIM:610377
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphadenopathy, Lymphocytosis ORPHA:139402
Mixed Connective Tissue Disease
Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Lymphadenopathy ORPHA:809
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Lymphadenitis, Anemia, Lymphadenopathy OMIM:615895
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Lymphadenopathy, Abnormality of the lymph nodes, Hepatosplenomegaly ORPHA:85450
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Lymphopenia, Splenomegaly ORPHA:549
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:93552
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy ORPHA:1572
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Waldenström Macroglobulinemia
Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Leukemia, Lymphadenopathy ORPHA:33226
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Pancytop... OMIM:615688
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphangiectasis, Lymphade... ORPHA:2035
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Carney Triad
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Splenomegaly OMIM:612852
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphadenopathy OMIM:607944
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:37042
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thrombocytopenia, Orange disco... ORPHA:31150
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis ORPHA:39812
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy, Peritoneal abscess ORPHA:1333
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Poems Syndrome
Polycythemia, Thrombocytosis, Lymphadenopathy ORPHA:2905
H Syndrome
Histiocytosis, Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy ORPHA:168569
Farber Disease
Anemia, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Q Fever
Splenomegaly, Hepatosplenomegaly, Granuloma, Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:781
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferative disorder, ... ORPHA:3260
Multiple Myeloma
Anemia, Lymphadenopathy, Splenomegaly ORPHA:29073
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Accessory spleen, Anemia, Polysplenia, Lymphadenopathy OMIM:619418
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Granuloma, Anemia, Thrombocytopenia, Lung... ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:32960
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Granuloma, Lymphad... ORPHA:228123
Hennekam Syndrome
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
Cherubism
Submandibular lymph node enlargement OMIM:118400
Igg4-Related Submandibular Gland Disease
Eosinophilia, Lymphadenopathy ORPHA:449432
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Familial Mediterranean Fever
Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia ORPHA:100077
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Increased hematocrit, Iron deficiency anemia ORPHA:100076
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Follicular hyperplasia, B lymphocytopenia, T... OMIM:619381
Sarcoidosis
Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Lymphadenopathy, Hemolytic anemia, Anem... ORPHA:797
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Marburg Hemorrhagic Fever
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... ORPHA:99826
Primary Sjögren Syndrome
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia, Lymphadenop... ORPHA:99827
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Splenomegaly ORPHA:667
Igg4-Related Kidney Disease
Eosinophilia, Lymphadenopathy, Lymphadenitis 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
Proteasome-Associated Autoinflammatory Syndrome 1
Thrombocytopenia, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:256040
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Abnormality of the lymph nodes, Neoplasm of the thymus, Decreased eosi... ORPHA:99889
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Blau Syndrome
Anemia, Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Thrombocytopenia, Lymphadenopathy ORPHA:509
African Trypanosomiasis
Hepatosplenomegaly, Lymphadenopathy, 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.

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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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