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Gene: Prdm11 MGI:2685553

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

PR domain containing 11

Synonyms:

8030443D09Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prdm11 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.

Human diseases associated with Prdm11 (0 diseases)
Human diseases predicted to be associated with Prdm11 (270 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prdm11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 50	Neutropenia, Lymphopenia, Decreased circulating antibody level	OMIM:300988
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 24	Decreased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Reduced proportion of mu...	OMIM:615897
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym...	OMIM:619924
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell...	OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve...	OMIM:606843
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga...	OMIM:619707
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I...	OMIM:613502
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy...	OMIM:615285
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir...	OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia...	OMIM:614470
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Whim Syndrome 1	Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level	OMIM:193670
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level	OMIM:233650
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr...	OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C...	ORPHA:169154
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen...	OMIM:301082
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos...	ORPHA:2688
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane...	ORPHA:98826
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt...	OMIM:308240
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr...	OMIM:615559
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Glutathione Synthetase Deficiency	Neutropenia, Hemolytic anemia	OMIM:266130
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ...	OMIM:618986
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune...	OMIM:619220
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega...	OMIM:150550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy...	OMIM:618987
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th...	OMIM:301078
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant...	OMIM:607594
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Acute lymphoblastic leukemia	OMIM:610738
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive...	OMIM:601859
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni...	OMIM:619752
Immunodeficiency 67	Liver abscess, Increased circulating IgE level, Transient neutropenia	OMIM:607676
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ...	ORPHA:158057
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet...	OMIM:301081
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab...	ORPHA:158061
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, Lack of T cell function, T lymphocytopenia, Decreased circulating antib...	ORPHA:572
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Decreased circulating total IgM, Monocytopenia, Decreased prop...	OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia	OMIM:617243
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia	OMIM:598500
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease...	OMIM:613500
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s...	ORPHA:540
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased...	OMIM:275350
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Decreased T cell activation, Hemolytic anemia, Decreased circulating IgE, Impaired ...	OMIM:308230
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell...	ORPHA:443811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Diamond-Blackfan Anemia 11	Anemia, Anemia of inadequate production, Bone marrow hypocellularity, Neutropenia	OMIM:614900
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula...	OMIM:612692
Immunodeficiency 64 With Lymphoproliferation	Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly,...	OMIM:618534
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas...	ORPHA:2442
Specific Granule Deficiency 2	Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R...	OMIM:601495
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ...	OMIM:300400
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl...	ORPHA:486
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia	OMIM:603585
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec...	ORPHA:3261
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Neutropenia, Splenomegaly, Anemia	ORPHA:79312
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope...	OMIM:169400
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells...	ORPHA:98850
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida...	OMIM:226990
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
X-Linked Agammaglobulinemia	Anemia, Neutropenia, Recurrent cutaneous abscess formation, Thrombocytopenia, Agammaglobulinemia	ORPHA:47
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni...	OMIM:619510
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased circulating an...	OMIM:618108
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Pancytopen...	OMIM:614700
Trichothiodystrophy 3, Photosensitive	Neutropenia, Increased circulating IgA level, Lymphopenia	OMIM:616395
Griscelli Syndrome Type 2	Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia	ORPHA:79477
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Decreased circulating total IgM, Decreased circulating antibo...	ORPHA:331206
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ...	OMIM:615816
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Abnormal cytokin...	ORPHA:158048
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr...	OMIM:616005
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Pancytopenia, Lymphopen...	OMIM:242900
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I...	OMIM:618394
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia	OMIM:614520
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly	ORPHA:398124
Felty Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lympho...	ORPHA:47612
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ...	OMIM:608203
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Neutropenia, Normochromic anemia	OMIM:614857
Propionic Acidemia	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:606054
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:292
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Cyclic Neutropenia	Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ...	ORPHA:2686
Aspergillosis	Neutropenia, Increased circulating IgE level, Eosinophilia	ORPHA:1163
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Immunodeficiency 43	Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine...	OMIM:241600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit...	ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop...	OMIM:613989
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Chediak-Higashi Syndrome	Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal...	OMIM:214500
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Impaired T cell function, Bone marrow hypocellularity, Decreased proportion ...	ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni...	OMIM:617303
Barth Syndrome	Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia	OMIM:302060
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red...	OMIM:608233
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Immunodeficiency 17	Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo...	OMIM:615607
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells	OMIM:619693
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Hepat...	OMIM:615952
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:619652
3-Methylglutaconic Aciduria Type 7	Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity	ORPHA:445038
Sepsis In Premature Infants	Anemia, Increased circulating interleukin 6 concentration, Leukocytosis, Thrombocytopenia, Neutro...	ORPHA:90051
Immunodeficiency 55	Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Vici Syndrome	Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym...	OMIM:242840
Methylmalonic Aciduria, Cblb Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251110
Necrotizing Enterocolitis	Thrombocytopenia, Neutropenia, Leukocytosis	ORPHA:391673
Fanconi Anemia, Complementation Group I	Neutropenia, Bone marrow hypocellularity	OMIM:609053
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	ORPHA:1959
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder...	ORPHA:3226
Cartilage-Hair Hypoplasia	Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi...	OMIM:250250
Methylmalonic Aciduria, Cbla Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251100
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Whim Syndrome	Neutropenia, Lymphopenia, Abnormality of neutrophil morphology, Decreased circulating antibody level	ORPHA:51636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Impai...	OMIM:600802
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:277380
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen...	OMIM:612541
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:600901
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in p...	ORPHA:37042
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Abnormality of B cel...	OMIM:613179
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Increased prop...	ORPHA:167
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly	OMIM:604173
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen...	OMIM:227645
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227650
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Selective Igm Deficiency	Decreased circulating total IgM, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	ORPHA:331235
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph...	ORPHA:906
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:607944
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Fusariosis	Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia	ORPHA:228119
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Increased circulatin...	ORPHA:3243
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T...	OMIM:557000
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia, Panhypogammaglobulinemia	ORPHA:33364
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti...	OMIM:301000
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen...	OMIM:227646
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia, Decreased circulating IgG level	OMIM:271510
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Neutropenia, Megaloblastic anemia	OMIM:277400
Cartilage-Hair Hypoplasia	Anemia, Neutropenia, Decreased circulating antibody level	ORPHA:175
Relapsing Fever	Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia	ORPHA:91547
Cohen Syndrome	Neutropenia	ORPHA:193
Khan-Khan-Katsanis Syndrome	Anemia, Neutropenia, Lymphopenia	OMIM:618460
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Liver abscess	ORPHA:54251
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Adult-Onset Still Disease	Splenomegaly, Neutrophilia, Bone marrow hypocellularity, Leukocytosis	ORPHA:829
Rothmund-Thomson Syndrome	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:2909
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Glycogen Storage Disease Ib	Neutropenia, Splenomegaly	OMIM:232220
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Neutropenia, Megaloblastic anemia	ORPHA:79282
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating anti...	ORPHA:508533
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Pearson Syndrome	Anemia, Reticulocytosis, Pancytopenia, Hypoplastic spleen, Bone marrow hypocellularity, Thrombocy...	ORPHA:699
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:50918
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve...	OMIM:260920
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome...	ORPHA:228426
Zygomycosis	Brain abscess, Neutropenia, Splenic abscess	ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology	ORPHA:79259
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Increased circulating interleukin 6 concentration, Abnormality of chemokine secret...	ORPHA:544482
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Chronic neutropenia, Transient neutropenia	ORPHA:500095
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Sponastrime Dysplasia	Neutropenia, Decreased circulating antibody level	ORPHA:93357
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
Aspartylglucosaminuria	Neutropenia, Vacuolated lymphocytes	OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat...	ORPHA:99829

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 Prdm11

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 Prdm11.

No publications found that use IMPC mice or data for Prdm11.

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MGI Allele	Allele Type	Produced
Prdm11^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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