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Gene: Bbc3 MGI:2181667

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Gene Summary

Name:
BCL2 binding component 3
Synonyms:
PUMA

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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 mean corpuscular hemoglobin concentration Bbc3em1(IMPC)Marc HOM Early adult 1.19×10-16
increased mean corpuscular hemoglobin Bbc3em1(IMPC)Marc HOM Early adult 2.40×10-10
hyperactivity Bbc3em1(IMPC)Marc HOM   Early adult 3.46×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Bbc3 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 Bbc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Schizophrenia 15
Hyperactivity OMIM:613950
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Mediastinal lymph... OMIM:300853
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Abnormality of ... OMIM:611926
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Cervical lymphadenopathy, Decreased proporti... OMIM:618534
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell f... ORPHA:277
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Follicular hyperplasia, ... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... ORPHA:169154
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Increased circulating IgM level, Sclerosing ch... OMIM:308230
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... ORPHA:331206
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... OMIM:619652
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... OMIM:619802
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Increased circulating IgM level, Lymphadenopathy, Splenomegaly ORPHA:37748
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... OMIM:242700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Splenomegaly ORPHA:848
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pyropoikilocytosis, Hereditary
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia OMIM:266140
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Lymphadenopathy, ... OMIM:617099
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Portal hyperte... ORPHA:98850
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Decrease... ORPHA:353298
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Acute monocytic leukemia, Cervical lymphadenopathy, Anemia, Hypochromic anemia, Lym... ORPHA:514
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Decreased specific anti-polysaccharide antibody level, Cholestasis, H... OMIM:614576
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobuli... OMIM:209920
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Leukocytosis, Pancreatic calcification ORPHA:676
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
T-Cell Immunodeficiency With Thymic Aplasia
Atypical or prolonged hepatitis, Oligoclonal T cell expansion, T lymphocytopenia, Decreased propo... ORPHA:83471
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:760
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Hyper-Igd Syndrome
Increased circulating IgA level, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Lymphadenopathy... OMIM:260920
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Bone Marrow Failure Syndrome 3
Hyperactivity, Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean ... OMIM:617052
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Pancreatitis, Bone marrow hypocellularity, Lym... ORPHA:1830
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Lead Poisoning
Attention deficit hyperactivity disorder, Anemia, Imbalanced hemoglobin synthesis, Abnormal T cel... ORPHA:330015
Vici Syndrome
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Lymphopenia, T lymph... OMIM:242840
Caroli Syndrome
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Leukopenia, Intrahepatic cholestasis, Pancrea... ORPHA:480520
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Increased circulating antibody level, Hepatomegaly, Pancytopenia, Ab... OMIM:181000
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Impaired T cell function, Abnormality of the tonsils, Thrombocytopenia,... ORPHA:567
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Impaired T cell function, Abnormality of the thymus, Thrombocyt... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690

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 Bbc3

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 Bbc3.

No publications found that use IMPC mice or data for Bbc3.

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
Bbc3em1(IMPC)Marc Deletion Mice
Bbc3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Bbc3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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