Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interferon regulatory factor 2 binding protein 2
Synonyms:
E130305N23Rik

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 Irf2bp2 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.

The table below shows human diseases associated to Irf2bp2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Irf2bp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, Prolonged neonatal... OMIM:224120
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Postnatal growth retardation, Hemolytic a... ORPHA:288
Diamond-Blackfan Anemia 4
Growth delay, Neutropenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Growth delay, Polycythemia OMIM:250800
Glycogen Storage Disease Ixc
Cirrhosis, Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegal... OMIM:613027
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Microvesicular hepatic steatosis, Intrauterine growth retardation, ... OMIM:610198
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Polycythemia, Cirrhosis OMIM:613280
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Elevated h... ORPHA:1572
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells OMIM:617765

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 Irf2bp2

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 Irf2bp2.

No publications found that use IMPC mice or data for Irf2bp2.

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MGI Allele Allele Type Produced
Irf2bp2tm457583(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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