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
embryonic lethality prior to organogenesis Bdp1em1(IMPC)Tcp HOM   E9.5 0.00
abnormal spleen morphology Bdp1em1(IMPC)Tcp HET Early adult 0.00
decreased neutrophil cell number Bdp1em1(IMPC)Tcp HET Early adult 2.59×10-05
enlarged urinary bladder Bdp1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Bdp1em1(IMPC)Tcp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 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
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Glutathione Synthetase Deficiency
Neutropenia, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia OMIM:266130
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Acute kidney injury, Thrombocytopenia, Neutropenia, Lymphop... ORPHA:859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Hydronephrosis, Neutropenia, Hydroureter, Thrombocyto... OMIM:598500
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
3-Methylglutaconic Aciduria, Type Viib
Neutropenia OMIM:616271
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Neutropenia, Anemia, Nephropathy, Focal segmental glomerulosc... OMIM:617056
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Exocrine pancreatic insufficiency OMIM:618752
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Thrombocytopenia ORPHA:79312
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, ... ORPHA:289916
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Cirrhosis OMIM:604250
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Barth Syndrome
Neutropenia, Organic aciduria, 3-Methylglutaconic aciduria, Granulocytopenia OMIM:302060
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Whim Syndrome 1
Neutropenia OMIM:193670
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, 3-Methylglutaconic aciduria OMIM:617248
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Retinal Venous Beading
Neutropenia, Nephritis OMIM:180080
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Hepatomegaly OMIM:251900
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent tonsillitis, ... ORPHA:2686
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Hydronephrosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Proteinuria, Megaloblastic anemia, Abnormal... ORPHA:35858
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bone marrow hypocellularity OMIM:614900
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Neutropenia, Aminoaciduria, Thrombocytopenia OMIM:603585
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Autoimmune throm... ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Neutropenia, Anemia, Thrombocytopenia OMIM:614857
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Anemia, Hepatitis, Abnormality of the tonsils, Abnormality of the ... ORPHA:47
Lichtenstein Syndrome
Neutropenia OMIM:246550
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Neutropenia, Anemia, Ketonuria, Aminoaciduria, Thrombocytopenia OMIM:614520
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Abnormal renal physi... ORPHA:540
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Propionic Acidemia
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Increased level of hippuric acid in urine, Pancr... OMIM:606054
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Nephrocalcinosis, Renal cyst, Bone marrow hypocellularity, 3-Methylglutaconic ... ORPHA:445038
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Thrombocytopenia, Neutropenia, Anemia, Focal segmental glomerulo... OMIM:242900
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Methylmalonic aciduria, Hepatomegaly, Neutropenia, Anemia, Ketonuria, Thrombocytopenia OMIM:251110
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria, Spleno... OMIM:617303
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Neutropenia, Anemia, Lymphadenopathy, Thromboc... ORPHA:520
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Neutropenia, Anemia, Hepat... ORPHA:292
Transcobalamin Ii Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:275350
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Methylmalonic aciduria, Hepatomegaly, Neutropenia, Anemia, Ketonuria, Thrombocytopenia OMIM:251100
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Proteinuria, Abnormal proportion of naive CD4 T cells, Neutropenia, ... ORPHA:1830
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Methylcobalamin Deficiency Type Cble
Pancytopenia, Abnormality of the liver, Hemolytic-uremic syndrome, Neutropenia, Increased mean co... ORPHA:2169
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Homocystinuria, Cystathioninuria, Methylmalonic aciduria, Megaloblastic anemia, Neu... OMIM:277380
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Bone marrow hypocellularity, Renal hypoplasia, Neutropenia, Vesicoureteral reflux OMIM:609053
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Hepato... OMIM:608233
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Chronic kidney disease, Hepatomegaly... ORPHA:1667
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Hepatomegaly OMIM:617050
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Nephrocalcinosis, Acute myeloid leukemia, Hepato... OMIM:260400
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Leukopenia, Normocytic anemia, Leukemia, Impaire... ORPHA:811
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome,... OMIM:619644
Autosomal Agammaglobulinemia
Neutropenia, Hepatitis ORPHA:33110
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Viral hepatitis, Biliary tract abnormality, Cholangitis OMIM:209920
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Fanconi Anemia, Complementation Group E
Pancytopenia, Ectopic kidney, Horseshoe kidney, Leukemia, Neutropenia, Anemia, Reticulocytopenia,... OMIM:600901
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Neut... OMIM:617941
Fanconi Anemia, Complementation Group A
Pancytopenia, Ectopic kidney, Horseshoe kidney, Leukemia, Neutropenia, Anemia, Reticulocytopenia,... OMIM:227650
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Sepsis In Premature Infants
Oliguria, Leukocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopen... ORPHA:90051
Kasabach-Merritt Syndrome
Leukopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemia, Reticulocytosis, Microangi... ORPHA:2330
Diamond-Blackfan Anemia 7
Horseshoe kidney, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia, Vesicoureter... OMIM:612562
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia, Peritonitis ORPHA:391673
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Reduced num... ORPHA:79284
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Splenomegaly, Jaundic... ORPHA:167
Fanconi Anemia, Complementation Group C
Pancytopenia, Ectopic kidney, Horseshoe kidney, Leukemia, Bone marrow hypocellularity, Neutropeni... OMIM:227645
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Aspergillosis
Neutropenia, Eosinophilia, Hepatitis ORPHA:1163
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Splenomegaly OMIM:604173
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Methylmalonic aciduria, Hemolytic-uremic syndrome, Proteinuria,... OMIM:277400
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Membranoproliferative glomerulonephritis, L... OMIM:615816
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune he... OMIM:615952
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Nephrotic syndro... ORPHA:37042
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ... ORPHA:829
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Neutropenia, Tubulointerstitial fibrosis, Lymphad... OMIM:607944
Fusariosis
Abnormality of the liver, Lung abscess, Peritonitis, Neutropenia, Granuloma, Abnormality of the s... ORPHA:228119
Fanconi Anemia, Complementation Group D2
Pancytopenia, Ectopic kidney, Horseshoe kidney, Leukemia, Bone marrow hypocellularity, Micropenis... OMIM:227646
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Renal tubular acidosis, Hypospadias OMIM:615471
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Exocrine pancreatic insufficiency, Abnormality of the liver, He... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, Generalized lymphadenopathy, Ne... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hepatosplenomegaly, Portal hypertension, Cholangitis, Neutropenia in presence of an... ORPHA:228426
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Rectal abscess OMIM:601495
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Lymph node h... OMIM:300755
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Blackfan-Diamond Anemia
Leukopenia, Horseshoe kidney, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Hypos... ORPHA:124
Leigh Syndrome
Generalized aminoaciduria, Renal tubular acidosis, Methylmalonic aciduria, Nephrotic syndrome, Re... ORPHA:506
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Bifid ureter, Ureteral duplication, Acute myeloid leukemia, Neutropenia, Anemia, Vesicoureteral r... OMIM:601347
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Nephrocalcinosis OMIM:618005
Relapsing Fever
Leukopenia, Leukocytosis, Hematuria, Acute kidney injury, Neutrophilia, Jaundice, Anemia, Thrombo... ORPHA:91547
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia, Lymphadenitis ORPHA:51636
Toxic Epidermal Necrolysis
Dysuria, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Abnormality of the urethra, Thro... ORPHA:537
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Proteinuria, Chronic neutr... ORPHA:79259
Pediatric-Onset Graves Disease
Splenomegaly, Hepatomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... ORPHA:525731
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic aciduria, Hemolytic-uremic syndrome, Megaloblastic anemia, Jaundice, Neutropenia, K... ORPHA:79282
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Cholangitis OMIM:614204
Cartilage-Hair Hypoplasia
Abnormality of the pancreas, Hepatomegaly, Neutropenia, Anemia, Mucopolysacchariduria ORPHA:175
Trichothiodystrophy
Neutropenia, Anemia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly... OMIM:260920
Cohen Syndrome
Neutropenia ORPHA:193
X-Linked Intellectual Disability, Nascimento Type
Micropenis, Hypospadias, Neutropenia, Recurrent cutaneous abscess formation, Vesicoureteral reflux ORPHA:163956
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Renal hypoplasia, Elevated red cell adenosine deam... OMIM:105650
Zygomycosis
Peritonitis, Renal insufficiency, Neutropenia, Hepatitis, Nephritis, Pancreatitis, Mediastinal ly... ORPHA:73263
Rothmund-Thomson Syndrome
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:2909
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:331235
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Abscess OMIM:612852
Hermansky-Pudlak Syndrome
Neutropenia, Renal insufficiency ORPHA:79430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Transient neutropenia, Chronic neutropenia, Multicystic kidney dys... ORPHA:500095
Rothmund-Thomson Syndrome Type 1
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:221016
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Functional abnormality of the bladder, Autoimmune thrombocytopenia, Autoimmun... ORPHA:391487
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Familial Mediterranean Fever
Leukocytosis, Nephrotic syndrome, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly, Stage 5 ... OMIM:249100
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anemia, Chronic lymphatic le... ORPHA:3243
Aspartylglucosaminuria
Neutropenia, Aspartylglucosaminuria, Hepatomegaly, Vacuolated lymphocytes OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Hematuria, Acute kidney injury, Dysuria, Abnormal penis morphology, Neutrop... ORPHA:95455
Sponastrime Dysplasia
Neutropenia, Hypospadias ORPHA:93357
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Acute pancreatitis, Leukopenia, Leukocytosis, Hematuria, Proteinuria, Cholecystitis... ORPHA:99827
Yellow Fever
Acute pancreatitis, Leukocytosis, Acute kidney injury, Anuria, Neutrophilia, Pancreatic hyperplas... 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.

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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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