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 myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Benign Occipital
EEG abnormality, Seizure OMIM:132090
Epilepsy, Reading
EEG abnormality, Seizure OMIM:132300
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... OMIM:617831
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... OMIM:615369
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... OMIM:254800
Developmental And Epileptic Encephalopathy 19
Status epilepticus, EEG with photoparoxysmal response, Atonic seizure, Focal hemiclonic seizure, ... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic absence seizure, Myoclonic seizure, Atypical absenc... OMIM:618596
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Hypsarrhythmia, Generalized non-motor ... OMIM:618141
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia, Seizure DECIPHER:4
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia, Seizure DECIPHER:54
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... OMIM:609446
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure OMIM:617771
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... OMIM:614417
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:79137
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Myoclonic-Atonic Epilepsy
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, EEG abnormality, EEG with polyspike wave complex... OMIM:617665
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, B... OMIM:614018
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Limb ataxia, F... OMIM:617350
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal impaired awareness seizure, Focal aware seizure OMIM:611631
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... OMIM:615476
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclon... ORPHA:36387
Lissencephaly 10
Atypical absence seizure, Atonic seizure, EEG abnormality, Focal impaired awareness seizure, Toni... OMIM:618873
Developmental And Epileptic Encephalopathy 6B
Ataxia, Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes (>3.5 Hz), Myoclon... OMIM:619317
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Generalized non-motor (absence) seizure, Seizure, Paresthesia ORPHA:98811
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... ORPHA:1945
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Interictal epileptiform activity, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized ... OMIM:619157
Carnosinase Deficiency
EEG abnormality, Generalized myoclonic seizure ORPHA:1361
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure OMIM:612621
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Myoclonus... ORPHA:86909
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic... OMIM:617836
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, EEG abnormality, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic... OMIM:601764
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... ORPHA:35878
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Atonic seizure, Dysmetria, Myoclonic seizure, Bilateral tonic-clonic seizure, Ga... OMIM:617810
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Complex febrile seizure, A... ORPHA:31709
Dravet Syndrome
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... ORPHA:33069
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Interictal epileptiform activity, EEG with focal epileptiform discharges, Bi... ORPHA:101046
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... ORPHA:98820
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-cloni... OMIM:271980
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Developmental And Epileptic Encephalopathy 12
Generalized-onset seizure, Hypsarrhythmia, Focal-onset seizure OMIM:613722
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure OMIM:618242
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Ataxia, EEG with focal spi... ORPHA:1942
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Increased theta frequency ac... ORPHA:1949
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus... ORPHA:485350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, Myoclonus, Infantile... ORPHA:411986
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Atonic se... ORPHA:168491
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Tonic seizure, Continuous spi... OMIM:619428
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Chorea, Focal sensory seizure, Seizure ORPHA:98809
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Dysmetria, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... OMIM:618170
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... ORPHA:501
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Intellectual Developmental Disorder, Autosomal Dominant 45
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Chorea, Bilateral tonic-clonic se... OMIM:617600
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Generalized-onset seizure, Eating-induced seizure, Myoclonic absence seizure, Abnormality... ORPHA:544254
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Liang-Wang Syndrome
Status epilepticus, Ataxia, Generalized non-motor (absence) seizure OMIM:618729
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Focal motor seizure, Atonic seizure, EEG with changes in voltage, Focal... ORPHA:95232
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... ORPHA:98795
Hyperprolinemia Type 2
Status epilepticus, Atonic seizure, Early onset absence seizures, Distal sensory impairment, Febr... ORPHA:79101
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Harel-Yoon Syndrome
Ataxia, Generalized non-motor (absence) seizure OMIM:617183
Early Infantile Epileptic Encephalopathy
Atonic seizure, EEG abnormality, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Nicolaides-Baraitser Syndrome
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:3051
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Focal impaired awareness seizure, Infantile spasms, EEG with burst suppressio... OMIM:616973
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Ataxia, EEG abnormality, EEG with focal spike waves, Generalized tonic seizur... OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Ataxia, Pain insensitivity, Tonic seizure, Chorea, Generalized non-motor (abs... OMIM:300260
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizure, Infantile spas... ORPHA:457351
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Ataxia, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infanti... OMIM:300912
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Bilateral tonic-clonic... ORPHA:79351
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (abs... ORPHA:395
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, EEG with photoparoxysmal response, Tonic seizure, Myoclonus, Infantile s... OMIM:619777
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoc... ORPHA:435638
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Ataxia, Atonic seizure, EEG abnormality, Generalize... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:617798
Dpm1-Cdg
Ataxia, Early onset absence seizures, Atonic seizure, Generalized myoclonic seizure, Generalized ... ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure OMIM:612337
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Kleefstra Syndrome Due To 9Q34 Microdeletion
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:96147
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
EEG with spike-wave complexes, Generalized myoclonic seizure, Generalized tonic seizure, Bilatera... ORPHA:369837
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Atonic seizure, EEG abnormality, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Chor... ORPHA:404454
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Tay-Sachs Disease
Typical absence seizure, Focal impaired awareness seizure, Dysmetria, Myoclonus, Seizure ORPHA:845
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:277590
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:258
Kinsship Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s... OMIM:619297
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:466943
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ga... ORPHA:513456
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Ataxia, Atonic seizure, Generalized myoclonic seizure, Febrile seizure (... ORPHA:268261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Impaired pain sensation, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Impaired pain sensation, Seizure ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:2636
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure ORPHA:77293
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Sotos Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Mowat-Wilson Syndrome
Status epilepticus, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Impaired pai... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, EEG abnormality, Seizure, Impaired pain sensation, Focal-onset seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, EEG abnormality, Seizure, Impaired pain sensation, Focal-onset seizure ORPHA:261552
Alström Syndrome
Typical absence seizure, Somatic sensory dysfunction, Ataxia 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.

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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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