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Gene: Eif2s2 MGI:1914454

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Gene Summary

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

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
preweaning lethality, complete penetrance Eif2s2em3(IMPC)Bay HOM   Early adult 0.00
abnormal spleen morphology Eif2s2em3(IMPC)Bay HET Early adult 0.00
hyperactivity Eif2s2em3(IMPC)Bay HET Early adult 8.49×10-07
embryonic lethality prior to organogenesis Eif2s2em3(IMPC)Bay HOM   E9.5 0.00
persistence of hyaloid vascular system Eif2s2em3(IMPC)Bay HET   Early adult 2.12×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right eye

17 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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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
Schizophrenia 15
Hyperactivity OMIM:613950
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus ORPHA:231736
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Coloboma, Optic atrophy OMIM:274270
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Hemochromatosis, Type 1
Impotence, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hypogona... OMIM:235200
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... OMIM:120200
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Hepatocellular carcinoma, Cholangiocarcinoma, Erectile dysfunction, ... ORPHA:465508
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Histidinemia
Hyperactivity ORPHA:2157
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... ORPHA:91495
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Retinal dysplasia, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Pierson Syndrome
Retinal detachment, Retinal hemorrhage, Remnants of the hyaloid vascular system, Posterior lentic... OMIM:609049
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Dysphagia ORPHA:637
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Attention deficit hyperactivity disorder,... OMIM:619539
Holoprosencephaly 2
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Microphthalmia, Syndromic 2
Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:300166
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Attention deficit hyperactivity diso... 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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