Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ELAV like RNA binding protein 3
Synonyms:
2600009P04Rik,  Huc,  mHuC

IMPC Data Collections

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

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.

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 Elavl3 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 Elavl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... OMIM:615369
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Febrile seizure (within t... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Angelman syndrome (Type 1)
Truncal ataxia, Seizure, EEG abnormality DECIPHER:4
Angelman syndrome (Type 2)
Truncal ataxia, Seizure, EEG abnormality DECIPHER:54
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-... ORPHA:307
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Absence seizure with ey... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Continuo... ORPHA:725
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Atypical absence seizure, Myoclonic absence seizure, Myocloni... OMIM:618596
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure, EEG with spike-wave c... ORPHA:79137
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Tonic seizure, Atypical ... OMIM:617771
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl... OMIM:617113
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Focal sensory seizure, Infantile spasms, Generalized-... OMIM:602066
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Focal motor seizure, ... OMIM:617665
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence ... OMIM:616346
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, EEG with spike-wave comple... OMIM:614018
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Ata... OMIM:616421
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Myoclonic absence seizure, Increased theta frequency activity ... OMIM:619000
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wave complexes, ... OMIM:620540
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, EEG with focal sharp slow waves, Bilateral to... ORPHA:2382
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Dysesthesia, Bilate... ORPHA:1945
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, EEG ... ORPHA:36387
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Chorea, Seizure, Ataxia, Choreoathetosis, Paresthesia ORPHA:98811
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Chorea, Myoclonic ... OMIM:619317
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, S... OMIM:619157
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality ORPHA:1361
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizur... OMIM:615400
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia,... OMIM:617836
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Myoclonic seizure, Focal impaired awaren... OMIM:617929
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Experiential epileptic aura, Chorea, Seizure, Focal i... ORPHA:31709
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with generalized epilepti... ORPHA:35878
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclonic s... OMIM:617810
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Pyridoxine-Dependent Epilepsy
Multifocal epileptiform discharges, Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure... ORPHA:3006
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Dravet Syndrome
Multifocal epileptiform discharges, Epilepsia partialis continua, Generalized clonic seizure, Foc... ORPHA:33069
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Focal motor seizure, Inf... ORPHA:599373
Developmental And Epileptic Encephalopathy 91
Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Seizure, Focal motor seizure... OMIM:617711
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxia, Myoclonic se... OMIM:620145
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal EEG discharges with secondar... ORPHA:1949
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Simp... ORPHA:1942
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, EEG with focal spikes, Se... ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, EEG with spike-wave ... ORPHA:168491
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure with gener... ORPHA:101070
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Hypsarrhythmia, Infa... ORPHA:411986
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Developmental And Epileptic Encephalopathy 42
Athetosis, Focal tonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:617106
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Paroxysmal Kinesigenic Dyskinesia
Chorea, Seizure, Athetosis, Focal sensory seizure ORPHA:98809
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Chorea, Focal impaired awareness hemiclonic seizure, Pai... OMIM:620149
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Multifo... OMIM:618170
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, G... OMIM:620166
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Chorea, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Focal impaired awareness seizure OMIM:616521
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms, Ataxia ORPHA:467166
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormality of pain sensation, Myoclonic absence seizure, Generalized-onset seizure, Eating-induc... ORPHA:544254
Hyperprolinemia Type 2
Distal sensory impairment, Seizure, Generalized-onset seizure, Dysesthesia, Early onset absence s... ORPHA:79101
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus, Ataxia OMIM:618729
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, EEG with spike-wave complexes, Hypsarrhythmia, Seizure, Focal moto... ORPHA:95232
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Seizure, EEG with focal epileptiform disch... ORPHA:98795
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure, Infantile spasms, Ataxia OMIM:617201
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Ataxia OMIM:617183
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Myoclonus, Generalized non-motor (absence... OMIM:616973
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Choreoathetosis, Ataxia, Myoclonic absence seizure OMIM:616034
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Multifocal epileptiform disc... OMIM:619229
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, ... ORPHA:457351
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Chorea, Seizure, Tonic seizure, Ataxia, Pain insensitivi... OMIM:300260
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:615398
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Athetosis, Bilateral tonic-cl... OMIM:620224
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Infantile... OMIM:300912
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Athetosi... ORPHA:79351
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Seizure, Infa... OMIM:619777
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... ORPHA:435638
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Angelman Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Atypical absence seizure, Atonic seizur... ORPHA:72
Dpm1-Cdg
Generalized myoclonic seizure, Seizure, Early onset absence seizures, Atonic seizure, Ataxia, Gen... ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure OMIM:612337
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:96147
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Chorea, Infantile spasms,... ORPHA:404454
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Seizure OMIM:617360
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Generalized myocloni... ORPHA:369837
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Abnormality of visual evoked potentials, Seizure, Focal-... ORPHA:258
Tay-Sachs Disease
Typical absence seizure, Seizure, Myoclonus, Focal impaired awareness seizure, Dysmetria ORPHA:845
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Fe... ORPHA:513456
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Typical absence seizure, Seizure ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Febri... OMIM:620330
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Tonic seizure OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:2636
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Atonic seizure, Typical absence seizure, Focal-onset seizure OMIM:617157
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Mowat-Wilson Syndrome
Focal-onset seizure, EEG with spike-wave complexes, Impaired pain sensation, Seizure, Atypical ab... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Impaired pain sensation, Seizure, Atypical absence seizure, EEG abnormality ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Impaired pain sensation, Seizure, Atypical absence seizure, EEG abnormality ORPHA:261552
Alström Syndrome
Typical absence seizure, Ataxia, Somatic sensory dysfunction ORPHA:64

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 Elavl3

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 Elavl3.

No publications found that use IMPC mice or data for Elavl3.

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
Elavl3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elavl3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Elavl3tm85434(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elavl3tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Elavl3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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