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Gene: Bdkrb1 MGI:88144

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Gene Summary

Name:
bradykinin receptor, beta 1
Synonyms:
kinin B1,  B1R

Order Alleles

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 circulating alkaline phosphatase level Bdkrb1em1(IMPC)H HOM Late adult 1.49×10-05
increased large unstained cell number Bdkrb1em1(IMPC)H HOM Late adult 1.41×10-07
increased grip strength Bdkrb1em1(IMPC)H HOM Late adult 2.44×10-07
decreased neutrophil cell number Bdkrb1em1(IMPC)H HOM Late adult 1.70×10-06
increased monocyte cell number Bdkrb1em1(IMPC)H HOM Late adult 1.13×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Echo

M-Mode Images

56 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Human diseases caused by Bdkrb1 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 Bdkrb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Whim Syndrome 2
Chronic neutropenia OMIM:619407
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hemochromatosis, Type 3
Elevated transferrin saturation, Anemia, Lymphopenia, Increased serum iron, Increased circulating... OMIM:604250
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c... OMIM:619644
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... OMIM:308240
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... OMIM:150550
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Whim Syndrome 1
Neutropenia OMIM:193670
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... ORPHA:158061
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Griscelli Syndrome Type 2
Hemophagocytosis, Hyperlipidemia, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hyperammonemia, Anemia ORPHA:289916
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619705
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... OMIM:619220
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... OMIM:301078
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia OMIM:615387
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... ORPHA:158048
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... ORPHA:292
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Thrombocytopenia, Hyperhomocystinemia, Hypomethioninemia, Elevated circul... OMIM:614857
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... OMIM:612541
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:251000
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... ORPHA:101096
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count OMIM:619752
Propionic Acidemia
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... OMIM:251110
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Wolcott-Rallison Syndrome
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Hyponatre... ORPHA:1667
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... ORPHA:540
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... OMIM:304790
Letterer-Siwe Disease
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:246400
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytopenia, Hypometh... ORPHA:2169
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Neutropenia OMIM:618253
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia ORPHA:398124
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia, Elevated circulating creatine kinase concentration, Highly elevat... OMIM:251900
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... ORPHA:2686
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Hyponatremia, Neutropenia ORPHA:391673
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Megaloblastic anemia, Anemia, Cystathioninemia, Thrombocytopenia, Hyperho... OMIM:277380
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Chediak-Higashi Syndrome
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... OMIM:214500
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... OMIM:251100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Barth Syndrome
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Transcobalamin Ii Deficiency
Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Pancytopenia, Neutropenia OMIM:275350
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:1959
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:604173
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... ORPHA:1830
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi... ORPHA:79284
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Shwachman-Diamond Syndrome
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:613989
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hypoproteinemia, Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormalit... ORPHA:167
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia OMIM:617303
Schimke Immunoosseous Dysplasia
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology OMIM:242900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Neutropenia ORPHA:508542
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Sepsis In Premature Infants
Leukocytosis, Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Sp... ORPHA:90051
Immunodeficiency 23
Hemolytic anemia, Abscess, Lymphopenia, Eosinophilia, Neutropenia OMIM:615816
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... OMIM:614700
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymphopenia, Macrocytic anemi... OMIM:250250
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... ORPHA:3226
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Thrombocytopenia,... OMIM:608233
Herpes Simplex Virus Encephalitis
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia ORPHA:1930
Trigeminal Neuralgia
Allodynia ORPHA:221091
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:600901
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Hyperammonemia, Neutropenia OMIM:615471
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Megaloblastic anemia, Cystathioninemia, Thrombocytopenia, Hyperhomocystin... OMIM:277400
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:227650
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis ORPHA:514
Kasabach-Merritt Syndrome
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... ORPHA:2330
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Increased prop... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia ORPHA:86843
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Hyperbilirubinemi... OMIM:557000
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Leukocytosis, Elevated circulating C-reactive protein c... ORPHA:829
Vici Syndrome
Leukopenia, Neutropenia, Lymphopenia, Elevated circulating creatine kinase concentration, Decreas... OMIM:242840
Fanconi Anemia, Complementation Group C
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:227645
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Fusariosis
Lung abscess, Granuloma, Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia ORPHA:228119
Glycogen Storage Disease Ib
Hyperlipidemia, Neutropenia, Hyperuricemia, Splenomegaly OMIM:232220
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Lymphopenia, Microcytic anemia, Chronic leuke... ORPHA:906
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... OMIM:615952
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Methylmalonic acidemia, Megaloblastic anemia, Elevated circulating palmitoleylcar... ORPHA:79282
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Leigh Syndrome
Hyperalaninemia, Neutropenia, Anemia ORPHA:506
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Absent natural killer cells, Hemophagocytosis, Aplastic anemia, Granulomatosi... ORPHA:2442
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:36238
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Whim Syndrome
Abnormality of neutrophil morphology, Lymphopenia, Neutropenia ORPHA:51636
Agammaglobulinemia, X-Linked
Neutropenia, Anemia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein conc... ORPHA:50918
Rothmund-Thomson Syndrome
Aplastic anemia, Anemia, Leukemia, Calcinosis, Neutropenia ORPHA:2909
Cohen Syndrome
Neutropenia ORPHA:193
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:227646
Pearson Syndrome
Hypophosphatemia, Reticulocytosis, Hypoplastic spleen, Anemia, Hyperalaninemia, Neutropenia, Hypo... ORPHA:699
Khan-Khan-Katsanis Syndrome
Neutropenia, Lymphopenia, Anemia OMIM:618460
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Leukemia, Calcinosis, Neutropenia ORPHA:221008
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Lymp... OMIM:301074
Trichothiodystrophy
Neutropenia, Increased mean corpuscular hemoglobin concentration, Anemia ORPHA:33364
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:612852
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Anemia, Leukemia, Calcinosis, Neutropenia ORPHA:221016
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Cartilage-Hair Hypoplasia
Neutropenia, Hypocalcemia, Anemia ORPHA:175
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Anemia, Elevated circulating C-reactive protein concent... ORPHA:3243
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Glycogen Storage Disease Ic
Hyperlipidemia, Hyperuricemia, Cyclic neutropenia OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hyperuricemia, Anemia, Chronic neutropenia, Hypertriglycer... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD3-positive T cell... ORPHA:331235
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Familial Mediterranean Fever
Leukocytosis, Elevated circulating amyloid A, Elevated circulating C-reactive protein concentrati... OMIM:249100
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Zygomycosis
Neutropenia, Brain abscess, Splenic abscess ORPHA:73263
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Benign Schwannoma
Allodynia ORPHA:252164
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Hyper-Igd Syndrome
Neutrophilia, Hepatosplenomegaly, Leukocytosis, Splenomegaly OMIM:260920
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Anemia ORPHA:95455
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... ORPHA:99829
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991

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 Bdkrb1

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 Bdkrb1.

No publications found that use IMPC mice or data for Bdkrb1.

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
Bdkrb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Bdkrb1tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Bdkrb1em1(IMPC)H Indel Mice

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