Gene Summary

Name:
ITPR interacting domain containing 1
Synonyms:
D530004J12Rik,  Ccdc129

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Itprid1em1(IMPC)Marc HOM Early adult 7.76×10-07
increased mean platelet volume Itprid1em1(IMPC)Marc HOM   Early adult 1.25×10-06
increased eosinophil cell number Itprid1em1(IMPC)Marc HOM Early adult 8.90×10-31
decreased lymphocyte cell number Itprid1em1(IMPC)Marc HOM Early adult 1.13×10-06
increased monocyte cell number Itprid1em1(IMPC)Marc HOM Early adult 1.72×10-06
increased basophil cell number Itprid1em1(IMPC)Marc HOM Early adult 1.23×10-21

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itprid1 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 Itprid1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 40
Lymphopenia OMIM:616433
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency 8
Lymphopenia OMIM:615401
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 19
Lymphopenia OMIM:615617
Halothane Hepatitis
Eosinophilia OMIM:234350
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Kimura Disease
Eosinophilia ORPHA:482
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Cinca Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Anemia ORPHA:39041
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Netherton Syndrome
Hypereosinophilia OMIM:256500
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Cystic Echinococcosis
Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst ORPHA:400
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Anisopoikilocytosis, Increased mean platelet ... OMIM:607330
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia ORPHA:199299
Alveolar Echinococcosis
Eosinophilia, Cutaneous abscess, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Retinal Venous Beading
Neutropenia OMIM:180080
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decrea... ORPHA:508533
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Anemia, Thrombocytopenia OMIM:274000
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Scleroderma
Hypereosinophilia ORPHA:801
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Sneddon Syndrome
Lymphopenia OMIM:182410
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Perianal abscess, Impaire... OMIM:618935
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Coccidioidomycosis
Eosinophilia, Granuloma, Abscess, Abnormality of the spleen ORPHA:228123
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly, Bone marrow hypocellularity ORPHA:829
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Ataxia-Telangiectasia
Lymphopenia ORPHA:100
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Sarcoidosis
Eosinophilia, Leukopenia, Increased T cell count, Anemia, Hemolytic anemia, Thrombocytopenia ORPHA:797
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Aplastic anemia, Lymphopenia OMIM:127550
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymph... ORPHA:1830
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anemia, Chronic lymphatic le... ORPHA:3243
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive ... ORPHA:90362
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Splenomegaly ORPHA:1572
Ataxia-Telangiectasia
T lymphocytopenia, Leukemia, Decreased proportion of CD4-positive helper T cells, Hypoplasia of t... OMIM:208900
Popov-Chang syndrome
Lymphopenia OMIM:618428
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc... OMIM:615688
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly OMIM:260920
Fusariosis
Lung abscess, Neutropenia, Granuloma, Abnormality of the spleen, Lymphopenia, Brain abscess ORPHA:228119
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636
Legionnaires Disease
Lymphopenia, Bone marrow hypocellularity, Splenomegaly ORPHA:549
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319213
Viss Syndrome
Hypereosinophilia OMIM:619472
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia OMIM:616541
Noonan Syndrome 14
Lymphopenia OMIM:619745
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Anemia, Neutrophilia, Leukocytosis ORPHA:99843
Cowden Syndrome 1
Lymphopenia OMIM:158350
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia OMIM:619708
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:99889
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Thrombocytopenia, Hemolytic anemia, Decreas... OMIM:619573
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Lymphopenia, Neutrophilia in presence of infection, R... ORPHA:99826
Primary Sjögren Syndrome
Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytope... ORPHA:289390
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Neutrophilia, Splenomegaly, Thrombocytopenia ORPHA:99827
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363

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 Itprid1

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 Itprid1.

No publications found that use IMPC mice or data for Itprid1.

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MGI Allele Allele Type Produced
Itprid1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Itprid1tm115082(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itprid1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itprid1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itprid1em1(IMPC)Marc Deletion Mice

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