Gene Summary

Name:
eukaryotic translation initiation factor 2B, subunit 4 delta
Synonyms:
Eif2b

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
embryonic lethality prior to organogenesis Eif2b4tm1b(KOMP)Wtsi HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Eif2b4tm1b(KOMP)Wtsi HOM   E12.5 0.00
abnormal embryo size Eif2b4tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal eye morphology Eif2b4tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Eif2b4tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Section images heterozygote 25% (1 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Gonadal fat pad  Section images heterozygote 25% (1 of 4)
Harderian gland  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Mesenteric adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 75% (3 of 4)
Pancreas  Wholemount images heterozygote 50% (2 of 4)
Parathyroid gland  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images  Section images heterozygote 75% (3 of 4)
Testis  Section images heterozygote 25% (1 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 5)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 5)
Embryo N/A heterozygote 40% (2 of 5)
Eye N/A heterozygote 40% (2 of 5)
Footplate N/A heterozygote 0.0% (0 of 5)
Forebrain N/A heterozygote 0.0% (0 of 5)
Forelimb N/A heterozygote 0.0% (0 of 5)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 5)
Head N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 40% (2 of 5)
Hindbrain N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote 0.0% (0 of 5)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 5)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 2.08% (1 of 48)
brain 1.37% (5 of 366)
central nervous system ganglion 1.92% (1 of 52)
ear 0.28% (1 of 357)
embryo 0.54% (2 of 370)
eye 0.29% (1 of 346)
footplate 0.27% (1 of 366)
forebrain 0.27% (1 of 374)
forelimb 0.28% (1 of 363)
gut 2.38% (1 of 42)
handplate 0.27% (1 of 371)
head 1.13% (4 of 354)
heart 0.26% (1 of 382)
hindbrain 1.09% (4 of 367)
hindlimb 0.28% (1 of 359)
liver 0.28% (1 of 361)
lung 0.0%
mandibular process 0.28% (1 of 360)
maxillary process 0.0%
midbrain 0.27% (1 of 375)
nose 1.89% (1 of 53)
oral cavity 0.0%
skeleton 1.54% (1 of 65)
skin 0.27% (1 of 364)
spinal cord 1.85% (1 of 54)
tail 0.26% (1 of 387)
tail somite group 0.27% (1 of 368)
trachea 2.27% (1 of 44)
urinary system 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

38 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Eif2b4 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 Eif2b4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter
Gliosis, Optic atrophy, Gait disturbance, Spasticity, Unsteady gait, Seizure OMIM:603896

The table below shows human diseases predicted to be associated to Eif2b4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Generalized myoclonic seizure, Retinal dystrophy, Optic atrophy, Cerebellar atrophy, Seizure OMIM:614706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration, Seizure OMIM:238340
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral ton... OMIM:162350
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Retinal dysplasia, Cerebellar hypoplasia OMIM:615771
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Dysdiadochokinesis, Cerebellar at... OMIM:256731
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... OMIM:618876
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus OMIM:125370
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, ... OMIM:213200
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Hypertonia, Loss of ambulation, Myoclonus, Babinski sign, Basal gangli... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... OMIM:117360
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... OMIM:616127
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Dentatorubral Pallidoluysian Atrophy
Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia,... ORPHA:101
Leukoencephalopathy With Vanishing White Matter
Gliosis, Optic atrophy, Gait disturbance, Spasticity, Unsteady gait, Seizure OMIM:603896

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 Eif2b4

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 Eif2b4.

No publications found that use IMPC mice or data for Eif2b4.

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MGI Allele Allele Type Produced
Eif2b4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Eif2b4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eif2b4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Eif2b4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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