Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
eukaryotic translation initiation factor 2 alpha kinase 4
Synonyms:
GCN2

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 Eif2ak4 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 Eif2ak4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Capillary Hemangiomatosis
ORPHA:199241
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
OMIM:234810

The table below shows human diseases predicted to be associated to Eif2ak4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Increased hepatic glyc... OMIM:232700
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Hepatic fibrosis, Hepatocel... ORPHA:79240
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Pulmonary Capillary Hemangiomatosis
ORPHA:199241
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
OMIM:234810

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 Eif2ak4

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 Eif2ak4.

No publications found that use IMPC mice or data for Eif2ak4.

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MGI Allele Allele Type Produced
Eif2ak4tm173992(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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