Gene Summary

Name:
eukaryotic translation initiation factor 2, subunit 2 (beta)
Synonyms:
EIF2,  D2Ertd303e,  2810026E11Rik,  EIF2B,  38kDa

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
persistence of hyaloid vascular system Eif2s2em3(IMPC)Bay HET   Early adult 2.85×10-05
preweaning lethality, complete penetrance Eif2s2em3(IMPC)Bay HOM   Early adult 0.00
hyperactivity Eif2s2em3(IMPC)Bay HET Early adult 9.68×10-07
embryonic lethality prior to organogenesis Eif2s2em3(IMPC)Bay HOM   E9.5 0.00
abnormal spleen morphology Eif2s2em3(IMPC)Bay HET 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.

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right eye

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Eif2s2 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 Eif2s2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Morm Syndrome
Retinal atrophy, Hyperactivity ORPHA:75858
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Hyperactivity, Optic atrophy OMIM:274270
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly OMIM:615924
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Cho... ORPHA:465508
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hepatomegaly OMIM:252920
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Hepatomegaly OMIM:252900
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly, Hepatomegaly OMIM:252930
Histidinemia
Hyperactivity ORPHA:2157
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Argininemia
Cholestasis, Hyperactivity, Hepatomegaly, Portal fibrosis, Micronodular cirrhosis OMIM:207800
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr... OMIM:609049
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Colon cancer, Abnormality of thyroid physiology, Brain neoplasm... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Neuroocular Syndrome
Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system, Attention deficit hyperact... OMIM:619539
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy, Attention deficit hyp... ORPHA:649

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 Eif2s2

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 Eif2s2.

No publications found that use IMPC mice or data for Eif2s2.

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MGI Allele Allele Type Produced
Eif2s2em2(IMPC)Bay Exon Deletion Mice
Eif2s2em3(IMPC)Bay Exon Deletion Mice, Tissue
Eif2s2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eif2s2em1(IMPC)Bay Deletion Mice
Eif2s2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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