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Gene: Cpgi399 MGI:5665530

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Gene Summary

Name:
CpG island 399
Synonyms:
CGI399

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytosis Cpgi399tm1.1(NCC)WCS HOM Early adult 4.84×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images
Cpgi399tm1.1(NCC)WCS
foot, abnormal digit morphology, foot phalanx, foot digit 5 phalanx, foot digit 5, HOM, Female, WTSI

Human diseases caused by Cpgi399 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 Cpgi399 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis, Histiocytosis OMIM:209950
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Anemia, Iron deficiency anemia OMIM:226300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia OMIM:615934
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Thrombocytosis, Leukopenia, Leukocytosis ORPHA:20
Poems Syndrome
Polycythemia, Thrombocytosis, Splenomegaly ORPHA:2905
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of memory B cells, Re... OMIM:301074
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, Th... OMIM:615688
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis OMIM:618213
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis ORPHA:84064
Brucellosis
Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Thrombocytosis, Hypersplenism ORPHA:1304
Kawasaki Disease
Thrombocytosis, Leukocytosis ORPHA:2331
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Doors Syndrome
Thrombocytosis ORPHA:79500

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 Cpgi399

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 Cpgi399.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cpgi399tm1.1(NCC)WCS PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cpgi399tm1.1(NCC)WCS PMC6671969

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MGI Allele Allele Type Produced
Cpgi399tm1000483(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpgi399tm1.1(NCC)WCS Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Cpgi399tm1(NCC)WCS KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cpgi399tm1000484(L1L2_lncRNA_xpA3_BactNeo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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