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Gene: Eif2ak2 MGI:1353449

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Gene Summary

Name:
eukaryotic translation initiation factor 2-alpha kinase 2
Synonyms:
dsRNA-activated kinase,  Tik,  4732414G15Rik,  Prkr,  Pkr,  2310047A08Rik,  IFN-induced and double-stranded RNA-activated kinase,  IFN- type I-induced and dsRNA-activated kinase,  eIF-2 alpha

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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
abnormal spleen morphology Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Eif2ak2em1(IMPC)Mbp HOM Early adult 0.00

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 Eif2ak2 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 Eif2ak2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Generalized Limb-Onset Dystonia
ORPHA:256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
OMIM:618877

The table below shows human diseases predicted to be associated to Eif2ak2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Afibrinogenemia, Congenital
Splenic rupture OMIM:202400
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... OMIM:615615
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... OMIM:615897
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections OMIM:618847
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Bronchiect... OMIM:240500
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Recurrent bronchitis, Decreased circulating IgA level,... OMIM:607594
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Sinusitis, Rec... ORPHA:572
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Decreased ci... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Pustule, Recurrent opportunistic infections, L... ORPHA:35078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... OMIM:600802
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of interleu... ORPHA:542323
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Pearson Syndrome
Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... ORPHA:699
Early-Onset Generalized Limb-Onset Dystonia
ORPHA:256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
OMIM:618877

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 Eif2ak2

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 Eif2ak2.

No publications found that use IMPC mice or data for Eif2ak2.

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MGI Allele Allele Type Produced
Eif2ak2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Eif2ak2tm284228(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eif2ak2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Eif2ak2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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