Gene Summary

Name:
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
Synonyms:
B130055N23Rik,  TFC5,  Tfnr,  TFIIIB90,  G630013P12Rik,  TAF3B1,  TFIIIB150

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged urinary bladder Bdp1em1(IMPC)Tcp HET Early adult 0.00
decreased neutrophil cell number Bdp1em1(IMPC)Tcp HET Early adult 2.14×10-05
increased lymphocyte cell number Bdp1em1(IMPC)Tcp HET Early adult 8.30×10-05
preweaning lethality, complete penetrance Bdp1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal spleen morphology Bdp1em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Bdp1em1(IMPC)Tcp HOM   E9.5 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.

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Bdp1 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.

The table below shows human diseases associated to Bdp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 112
OMIM:618257

The table below shows human diseases predicted to be associated to Bdp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Renal cyst, Neutropenia,... OMIM:617056
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Thrombocytopenia, Neutropen... ORPHA:289916
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Hepatosplenomegal... ORPHA:158057
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Whim Syndrome 1
Neutropenia OMIM:193670
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia, Micropenis OMIM:620501
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Nephrotic syndrome, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Aut... OMIM:603909
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:88
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Acquired Partial Lipodystrophy
Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:158061
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Anemia, Neutropenia, Throm... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Renal insufficiency, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr... ORPHA:293173
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
3-Methylglutaconic Aciduria, Type Viia
Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis OMIM:619835
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemo... OMIM:301110
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Pancytopenia, Anemia, Pancreatitis, N... OMIM:606054
X-Linked Agammaglobulinemia
Hepatitis, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutropenia, Thromboc... ORPHA:47
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Jaundice OMIM:250940
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Unilateral renal agenesis, Anemia of inadequate production OMIM:614900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Pancreatitis, Thrombocytopeni... OMIM:251000
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Urethra... OMIM:613989
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, ... ORPHA:540
Immunodeficiency 92
Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-switched memor... OMIM:619652
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie... ORPHA:445038
Congenital Enterovirus Infection
Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Th... ORPHA:292
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Anemia, Neutro... ORPHA:158048
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Wolcott-Rallison Syndrome
Chronic kidney disease, Exocrine pancreatic insufficiency, Abnormality of the liver, Renal insuff... ORPHA:1667
Schimke Immuno-Osseous Dysplasia
Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom... ORPHA:1830
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... OMIM:614700
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Anemia, Reticulocy... OMIM:275350
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Leukopenia, Splenomeg... OMIM:617303
Evans Syndrome
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu... ORPHA:2169
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ... OMIM:242900
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Neutropenia OMIM:618253
Barth Syndrome
Cyclic neutropenia, 3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Neutropenia, Gran... OMIM:302060
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid level, Elevat... OMIM:251100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Urethr... OMIM:613990
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:251110
Autosomal Agammaglobulinemia
Hepatitis, Neutropenia ORPHA:33110
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Neutropenia OMIM:609053
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Lymphadenopathy, Thromboc... OMIM:619644
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, A... OMIM:260400
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Sepsis In Premature Infants
Oliguria, Leukocytosis, Splenomegaly, Reversible renal failure, Anemia, Neutropenia, Thrombocytop... ORPHA:90051
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum... ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Anemia, Megaloblastic ane... OMIM:277380
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi... OMIM:600901
Mhc Class Ii Deficiency 1
Viral hepatitis, Cholangitis, Neutropenia, Biliary tract abnormality OMIM:209920
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:615816
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... OMIM:615952
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia, Hepatomegaly OMIM:251900
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocytic anemia, Ne... OMIM:612562
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic a... OMIM:557000
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Reduced number of intrahepatic bile ducts, Meg... ORPHA:79284
Aspergillosis
Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi... OMIM:227650
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Membranous nephropa... ORPHA:37042
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm... OMIM:617941
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... ORPHA:228119
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Anemia, Reticulocytopenia, Neutropen... OMIM:227645
Cartilage-Hair Hypoplasia
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... OMIM:250250
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Auto... OMIM:613179
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutropenia OMIM:616271
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim... OMIM:607944
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Anemia, Lymph... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Tubulointerstitial ... ORPHA:139402
Relapsing Fever
Acute kidney injury, Leukopenia, Leukocytosis, Hematuria, Thrombocytopenia, Neutrophilia, Anemia,... ORPHA:91547
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Horseshoe kidney, Pancytopenia, Anemia, Reticulocy... OMIM:227646
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt... OMIM:300755
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro... ORPHA:906
Pearson Syndrome
Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Abnorma... ORPHA:699
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Neutropenia, An... OMIM:618460
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Renal tubular acidosis, Neutropenia OMIM:615471
Vici Syndrome
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Penile hypospadias,... OMIM:242840
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hypertension, Cirrhosis, Neutr... ORPHA:228426
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Neutropenia OMIM:618005
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Anemia, Generali... ORPHA:829
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Toxic Epidermal Necrolysis
Abnormality of the urethra, Renal insufficiency, Pancreatitis, Thrombocytopenia, Neutropenia, Ane... ORPHA:537
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Chr... OMIM:232240
Whim Syndrome
Abnormal neutrophil morphology, Lymphopenia, Lymphadenitis, Neutropenia ORPHA:51636
Leigh Syndrome
Generalized aminoaciduria, Methylmalonic aciduria, Renal tubular acidosis, 3-Methylglutaconic aci... ORPHA:506
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Neutrophilia OMIM:614204
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Revesz Syndrome
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia OMIM:268130
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Autoimmune hemolytic an... OMIM:620565
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... ORPHA:79259
Pediatric-Onset Graves Disease
Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegal... ORPHA:525731
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Megaloblastic anemia, Thrombocytopenia, N... ORPHA:79282
Cohen Syndrome
Neutropenia ORPHA:193
Zygomycosis
Nephritis, Brain abscess, Hepatitis, Renal insufficiency, Peritonitis, Pancreatitis, Splenic absc... ORPHA:73263
Cartilage-Hair Hypoplasia
Anemia, Mucopolysacchariduria, Neutropenia, Hepatomegaly, Abnormality of the pancreas ORPHA:175
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Neutropenia, Micropenis, Hypospadias, Recurrent cutaneous abscess formation ORPHA:163956
Trichothiodystrophy
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Neutropenia OMIM:617799
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Hermansky-Pudlak Syndrome
Renal insufficiency, Neutropenia ORPHA:79430
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Hepatitis, Lymphopenia, Hepatosplenomegaly, Renal artery s... ORPHA:391487
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Rothmund-Thomson Syndrome
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:2909
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Chronic neutropenia, Enlarged ... ORPHA:500095
Rothmund-Thomson Syndrome Type 1
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:221008
Familial Mediterranean Fever
Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomega... OMIM:249100
Rothmund-Thomson Syndrome Type 2
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:221016
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Jaundice, 3-Methylglutaconic aciduria, Neutropenia OMIM:617248
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Transient neutropenia, Renal cyst OMIM:617107
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Leukocytosis, S... ORPHA:3260
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... ORPHA:3243
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Aspartylglucosaminuria, Neutropenia OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... ORPHA:95455
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Hy... OMIM:619991
Sponastrime Dysplasia
Hypospadias, Neutropenia ORPHA:93357
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Leukocytosis, Renal insufficiency, Thrombocy... ORPHA:99829
Deafness, Autosomal Recessive 112
OMIM:618257

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 Bdp1

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 Bdp1.

No publications found that use IMPC mice or data for Bdp1.

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
Bdp1em1(IMPC)Tcp Exon Deletion Mice
Bdp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Bdp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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