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Gene: Eif4b MGI:95304

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Gene Summary

Name:
eukaryotic translation initiation factor 4B
Synonyms:
2310046H11Rik

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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
preweaning lethality, complete penetrance Eif4bem1(IMPC)J HOM   Early adult 0.00
hemorrhage Eif4bem1(IMPC)J HOM E15.5 0.00
embryonic growth retardation Eif4bem1(IMPC)J HOM E15.5 0.00
abnormal auditory brainstem response Eif4bem1(IMPC)J HET   Early adult 2.02×10-05
edema Eif4bem1(IMPC)J HOM E15.5 0.00
increased grip strength Eif4bem1(IMPC)J HET Early adult 5.90×10-10

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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X-ray

XRay Images Forepaw

5 Images

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X-ray

XRay Images Skull Lateral Orientation

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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Electroretinography 3

Fundus file

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Eif4b 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 Eif4b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Lipedema
Edema OMIM:614103
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Preeclampsia/Eclampsia 1
Hypertension, Edema, Intrauterine growth retardation OMIM:189800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Breath-Holding Spells
Pallor OMIM:607578
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Pallor OMIM:613561
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis, Intrauterine growth ... OMIM:266200
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis ORPHA:848
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pallor ORPHA:163596
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly ORPHA:276575
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Lymphatic Malformation 2
Lymphedema OMIM:611944
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Evans Syndrome
Jaundice, Pallor, Petechiae ORPHA:1959
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... ORPHA:231222
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... ORPHA:824
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
White Sponge Nevus 2
Edema OMIM:615785
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor ORPHA:90037
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:3226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Hepatomegaly, Pallor ORPHA:75564
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:99931
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Pallor ORPHA:3386
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice, Pallor ORPHA:90033
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Hepatic... ORPHA:231226
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Retinitis Pigmentosa 75
Pallor OMIM:617023
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... ORPHA:231214
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura ORPHA:90051
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor ORPHA:98870
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Erythema, Pallor ORPHA:3099
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... OMIM:557000
Waldenström Macroglobulinemia
Splenomegaly, Hepatomegaly, Pallor, Purpura ORPHA:33226
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor ORPHA:134
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Pallor ORPHA:98849
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Chronic hepatitis, Hepatosplenomegaly, ... ORPHA:3260
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Adenohypophysitis
Pallor ORPHA:95512
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Panhypophysitis
Pallor ORPHA:95513
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Degcags Syndrome
Hepatomegaly, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Pallor, Intrauterine g... OMIM:619488
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Pallor ORPHA:667
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Spina bifida occulta, Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Esophageal Atresia
Pallor ORPHA:1199
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor OMIM:227646
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Diamond-Blackfan Anemia
Pallor ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125

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 Eif4b

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 Eif4b.

No publications found that use IMPC mice or data for Eif4b.

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MGI Allele Allele Type Produced
Eif4bem1(IMPC)J Exon Deletion Mice

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