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Gene: Eif4ebp2 MGI:109198

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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 4E binding protein 2
Synonyms:
4E-BP2,  PHAS-II,  2810011I19Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Eif4ebp2 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 Eif4ebp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... ORPHA:168782
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
N-Acetylaspartate Deficiency
Short attention span, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Foxg1 Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Bruxism, Cognitive impairment, Agen... ORPHA:561854
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Abnormal repeti... OMIM:612069
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions OMIM:617820
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Progressive Supranuclear Palsy
Impulsivity, Abnormal synaptic transmission, Dementia, Cognitive impairment, Dysphagia, Memory im... ORPHA:683
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... ORPHA:444002
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Hsd10 Disease
Short attention span, Abnormal social behavior, Dysphagia ORPHA:391417
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Pontocerebellar Hypoplasia, Type 11
Abnormal repetitive mannerisms, Self-injurious behavior, Attention deficit hyperactivity disorder... OMIM:617695
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Self-injurious behavior, Abnor... ORPHA:449291
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... ORPHA:1020
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Impaired social interacti... OMIM:610042
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Motor deterioratio... ORPHA:79264
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Agitation, Cognitive impairment, Abnormal repetitive mannerisms, Delirium ORPHA:927
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyper... OMIM:619580
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... ORPHA:208447
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lateral ventricle dilatation, Abnormal repetitive mannerisms OMIM:613443
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... OMIM:123450
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Motor deterioration, Dementia, Mental deterioration, Obsessiv... ORPHA:168491
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-banging, Attention defi... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Chromosome 15Q11.2 Deletion Syndrome
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired social inte... OMIM:615656
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Agenesis of corpus callosum, Attention deficit hyperactivity di... OMIM:619312
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms, Lateral ventricle dilatation OMIM:617751
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness OMIM:619293
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder ORPHA:64280
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... OMIM:613174
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Partial agenesis of the corpus callosum, Delayed early-childhood social mil... ORPHA:300570
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... OMIM:620073
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Dysphagia, Agenesis of corpus c... OMIM:619435
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... OMIM:300352
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Prader-Willi Syndrome Due To Translocation
Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Compulsive be... ORPHA:177907
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619877
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Lateral ventricle dilatation, Agitation, Dysphagia, Abnormal repetitive man... OMIM:619229
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attent... OMIM:619575
Intellectual Developmental Disorder, Autosomal Dominant 52
Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica OMIM:617796
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... ORPHA:261197
Smith-Magenis Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:819
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms... OMIM:616364
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive... OMIM:606232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Impaired social interactions, Bruxism OMIM:613454
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Dementia, Memory impairment, Abnorma... ORPHA:309271
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressiv... ORPHA:457279
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
48,Xxxy Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:96263
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:93932
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration ORPHA:309263
Kleefstra Syndrome
Aggressive behavior, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus ... ORPHA:261494
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Bainbridge-Ropers Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Recurrent hand flapping, Abnormal repetiti... OMIM:615485
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Dysphagia, A... ORPHA:319182
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Repe... OMIM:619475
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Lateral ventricle dilatation, Compulsive ... OMIM:615873
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Impaired ... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Partial agenesis of the corpus callosum, Self-injurious behavior, Agenesis of corp... OMIM:619512
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness OMIM:301030
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Agenesis of corpus callosum, Bruxism ORPHA:48652
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Dementia, Disinh... ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:2479
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... ORPHA:805
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Agitation, Memory impairment, Abnormal repetitiv... ORPHA:217253
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social behavior, Agene... ORPHA:363958
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Aggressive behavior ORPHA:314647
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:468631
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:464311
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:508498
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:534
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:464306
1P36 Deletion Syndrome
Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Dysphagia, Agenesis of corpu... ORPHA:1606
Ogden Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Hypotonia, Ataxia, And Delayed Development Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms ORPHA:513456
Wolf-Hirschhorn Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms OMIM:194190
Williams Syndrome
Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Overfri... ORPHA:904
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Primrose Syndrome
Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity... OMIM:259050
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Norrie Disease
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:649
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Mowat-Wilson Syndrome
Abnormal repetitive mannerisms, Bruxism, Impaired social interactions, Dysphagia, Agenesis of cor... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal repetitive mannerisms, Bruxism, Lateral ventricle dilatation, Dysphagia, Agenesis of cor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal repetitive mannerisms, Bruxism, Lateral ventricle dilatation, Dysphagia, Agenesis of cor... ORPHA:261552

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 Eif4ebp2

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 Eif4ebp2.

No publications found that use IMPC mice or data for Eif4ebp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Eif4ebp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eif4ebp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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