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Gene: Eef1b2 MGI:1929520

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Gene Summary

Name:
eukaryotic translation elongation factor 1 beta 2
Synonyms:
2810017J07Rik

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
abnormal auditory brainstem response Eef1b2em1(IMPC)J HOM   Early adult 0.0358
hyperactivity Eef1b2em1(IMPC)J HOM Early adult 5.22×10-06
increased bone mineral content Eef1b2em1(IMPC)J HOM Early adult 2.66×10-05
increased bone mineral density Eef1b2em1(IMPC)J HOM Early adult 8.12×10-05
impaired righting response Eef1b2em1(IMPC)J HOM Late adult 1.74×10-07
absent vibrissae Eef1b2em1(IMPC)J HOM   Late adult 1.98×10-05
hyperactivity Eef1b2em1(IMPC)J HET Early adult 4.20×10-06
hyperactivity Eef1b2em1(IMPC)J HOM   Late adult 8.01×10-07
limb grasping Eef1b2em1(IMPC)J HOM Late adult 8.33×10-08
decreased grip strength Eef1b2em1(IMPC)J HOM   Late adult 3.26×10-06

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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

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

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X-ray

XRay Images Forepaw

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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X-ray

XRay Images Skull Lateral Orientation

23 Images

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Auditory Brain Stem Response

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

16 Images

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Human diseases caused by Eef1b2 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 Eef1b2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... OMIM:239100
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... ORPHA:3416
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment ORPHA:178377
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... ORPHA:2790
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Sensorineural hearing im... ORPHA:3152
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia OMIM:618406
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosi... OMIM:607634
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavic... OMIM:144750
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment OMIM:167250
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture OMIM:620366
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... ORPHA:210110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... OMIM:611490
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct... ORPHA:1522
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair OMIM:300983
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... ORPHA:1782
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Optic atrophy, Ost... OMIM:259700
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Abnormal vertebral segmentation and... ORPHA:90650
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... ORPHA:53
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity, Dysmetria, Gait ataxia OMIM:618090
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ... OMIM:259710
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Increased bone mineral density, Camptodactyly of finger, Joint... ORPHA:628
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... OMIM:618718
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Chorea, Dysphagia, Gait... ORPHA:500180
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Congenital sensorineural hearing impairment, Increased bone mineral density, Posteriorly rotated ... OMIM:617306
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Osteopetrosis OMIM:615085
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Juvenile Huntington Disease
Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dystonia ORPHA:248111
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density ORPHA:1237
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Sensorineural hearing... OMIM:239000
Camurati-Engelmann Disease
Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Cortical thicken... OMIM:131300
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Posteriorly rotated ears, Facial palsy, Osteopetrosis, Low-set ea... ORPHA:2780
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior ORPHA:3077
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Joint stiffness, Aggressive behavior, Dense calvaria, Hearing impairment OMIM:252920
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... ORPHA:77259
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis ORPHA:3240
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... OMIM:224300
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620023
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Joint hypermobility, Impulsivity OMIM:300143
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Sensorineural hearing impairment OMIM:608747
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Histidinemia
Hyperactivity ORPHA:2157
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... OMIM:618476
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... OMIM:193700
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Hearing impairment, Joint stiffness OMIM:252900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... ORPHA:163681
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression OMIM:259730
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Facial palsy, Cranial hyperostosis, Optic atro... OMIM:259720
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Abnormal earlobe morphology, L... ORPHA:35107
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decrease... ORPHA:909
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Abnormal pinna morphology, Camptodactyly of finger, Tarsal synost... ORPHA:90652
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis ORPHA:94089
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Facial palsy, Macrotia, Cranial hyperostosis, Limitation of joint... ORPHA:2658
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Limitation of joi... ORPHA:89936
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of skull base, Sclerosis of foot bone ORPHA:2905
Schwartz-Jampel Syndrome
Low-set, posteriorly rotated ears, Hip contracture, Increased bone mineral density, Abnormally os... ORPHA:800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, Dyston... OMIM:610217
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal tem... ORPHA:449291
Kenny-Caffey Syndrome, Type 2
Papilledema, Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Optic atrophy, Optic neuropathy OMIM:259900
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Protru... ORPHA:33364
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Sensorineural hearing impairment, Reduced bone mineral density, H... ORPHA:79443
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Increased bone mineral density, Osteolysis ORPHA:35687
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Desmosterolosis
Posteriorly rotated ears, Generalized osteosclerosis, Cupped ear, Low-set ears, Arthrogryposis mu... OMIM:602398
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Posteriorly rotated ears, Patchy osteosclerosis OMIM:241410
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Polyphagia ORPHA:79444
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Low-set ears ORPHA:50945
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Patchy osteosclerosis ORPHA:2323
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Optic atrophy, Macrotia, Abnormality... ORPHA:90321
Sclerosteosis 1
Papilledema, Facial palsy, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial h... OMIM:269500
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis OMIM:612301
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Hearing impairment, Increased su... OMIM:119600
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior ORPHA:401973
Cockayne Syndrome A
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... OMIM:216400
Primary Hyperoxaluria
Generalized osteosclerosis, Optic disc pallor, Optic atrophy, Recurrent fractures ORPHA:416
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Optic nerve c... ORPHA:667
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Low-set, posteriorly rotated ears, Join... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Cranial nerve compression, Optic atrophy, Osteopetrosis, Conductive hearing ... ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hypsarrhythmia, Sclerosis of skull base, Low-set ears, Thickened... OMIM:269150

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 Eef1b2

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 Eef1b2.

No publications found that use IMPC mice or data for Eef1b2.

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
Eef1b2em1(IMPC)J Exon Deletion Mice
Eef1b2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eef1b2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Eef1b2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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