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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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 Similarity of
phenotypes
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
Prdm11tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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