Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glutamate receptor, ionotropic, AMPA4 (alpha 4)
Synonyms:
spkw1,  Gluralpha4,  Glur4,  Glur-4

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 Gria4 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.

The table below shows human diseases associated to Gria4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder OMIM:617864
Non-Specific Syndromic Intellectual Disability
Impaired tandem gait, Decreased body weight, Panic attack, Attention deficit hyperactivity disorder ORPHA:528084

The table below shows human diseases predicted to be associated to Gria4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
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
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
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
Intellectual Developmental Disorder, Autosomal Recessive 2
Seizure, Attention deficit hyperactivity disorder OMIM:607417
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal sensory seizure with visual features, Focal aware seizure OMIM:611631
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder OMIM:617787
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:615744
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... ORPHA:307
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... ORPHA:280397
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Seizure, Atonic seizure, Myoclonus OMIM:614018
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Seizure, Atonic seizure OMIM:610293
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Seizure, Ataxia OMIM:617113
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Deafness, Congenital, And Familial Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus OMIM:220300
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Polymicrogyria, Bilateral Temporooccipital
Focal impaired awareness seizure, Seizure, Status epilepticus OMIM:612691
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:617665
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:618141
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Myoclon... ORPHA:2590
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Ceroid Lipofuscinosis, Neuronal, 6A
Motor deterioration, Abnormal nervous system electrophysiology OMIM:601780
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Focal-onset seizure, Generalized-onset seizure ORPHA:86814
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Generalized-onset seizure OMIM:613722
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... ORPHA:178469
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Depression, Weigh... OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Difficulty walking, Attention defic... OMIM:619191
Dravet Syndrome
Photosensitive myoclonic seizure, Atypical absence seizure, Focal hemiclonic seizure, Complex feb... ORPHA:33069
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619616
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Dystonia, Memory impairment, Anxiety, Inappropriate behavior, Ataxia, Depre... ORPHA:401901
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... ORPHA:208447
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:271980
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait atax... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Seizure, Febrile seizure (within the age... OMIM:301008
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (w... OMIM:617188
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Generalized myoclonic seizure, Inability to walk, Gait disturbance, Sei... OMIM:618090
Spinocerebellar Ataxia 12
Dysmetria, Action tremor, Axial dystonia, Anxiety, Dementia, Head tremor, Progressive cerebellar ... OMIM:604326
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Generalized tonic seizure, Focal impaired awareness seizure, Generalized non-moto... ORPHA:411986
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure OMIM:602066
Ceroid Lipofuscinosis, Neuronal, 5
Dysmetria, Motor deterioration, Ataxia, Dysdiadochokinesis, Abnormal nervous system electrophysio... OMIM:256731
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Cognitive impairment, No social interaction, Unhap... ORPHA:96369
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:485350
Dopa-Responsive Dystonia
Dystonia, Generalized dystonia, Oculogyric crisis, Abnormal social behavior, Agoraphobia, Anxiety... ORPHA:255
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Anxiety, Dementia, Bradykinesia, Depression OMIM:605909
Benign Familial Neonatal Epilepsy
Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure, Limb myoclonus, Focal tonic... ORPHA:1949
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Cachexia, ... OMIM:618093
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Mental deterioration, Ataxia, Tremor OMIM:615924
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity... ORPHA:3077
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Generalized myoclonic-atonic ... ORPHA:1942
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... OMIM:618170
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Eating-induced seizure, Generalized-onset seizure ORPHA:544254
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Irritability, Separation... ORPHA:66624
Perry Syndrome
Suicidal ideation, Short stepped shuffling gait, Dystonia, Disinhibition, Anxiety, Bradykinesia, ... OMIM:168605
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Anxiety, Dementia, Motor deteri... ORPHA:168782
Nicolaides-Baraitser Syndrome
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:3051
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal i... OMIM:619428
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Attention deficit hyperactivity dis... ORPHA:444002
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Typical a... ORPHA:168491
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:95232
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Hyperprolinemia Type 2
Atonic seizure, Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:79101
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Ab... ORPHA:309246
Young-Onset Parkinson Disease
Impaired social interactions, Cognitive impairment, Dystonia, Anxiety, Dementia, Bradykinesia, Pa... ORPHA:2828
Infantile Convulsions And Choreoathetosis
Complex febrile seizure, Focal-onset seizure, Experiential epileptic aura, Focal impaired awarene... ORPHA:31709
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Progressive language deterioration, Hyperactivity, Ataxia, Aggressi... OMIM:610042
Stiff Person Spectrum Disorder
Anxiety, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Memory impairment, Abnormal social behavior, Disinhibition, Dementia, Ataxia ORPHA:1020
Kohlschutter-Tonz Syndrome-Like
Focal-onset seizure, Focal myoclonic seizure, Generalized tonic seizure, Myoclonus, Nocturnal sei... OMIM:619229
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Focal emotional seizure with laughing, Epileptic s... ORPHA:79351
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Tonic seizure, Seizure, Status epilepticus OMIM:300260
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Tremor ORPHA:391417
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... OMIM:300912
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized n... ORPHA:395
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:457351
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Hyperekplexia-Epilepsy Syndrome
Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:96147
Tay-Sachs Disease
Apathy, Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Dpm1-Cdg
Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizure, Early onset absence sei... ORPHA:79322
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Febrile seizure (within the age ... ORPHA:1934
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Mental deterioration, Gait at... OMIM:610217
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoclonus, Bilateral ton... ORPHA:72
Metachromatic Leukodystrophy, Adult Form
Dystonia, Memory impairment, Intention tremor, Abnormal social behavior, Dementia, Emotional labi... ORPHA:309271
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavio... ORPHA:449291
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Abnormal social behavior, Intention tremor, Emotional lability, Progressive psychomotor... ORPHA:309263
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Status epilepticus, Generalized-onset seizure ORPHA:564178
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Lethargy, Emotional lability, Irritab... OMIM:608643
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Dystonia, Exaggerated startle response OMIM:272750
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal social behavior ORPHA:530983
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Atonic seizure, Generalized myoclonic seizure, Focal emotional seizure with laughing, Focal tonic... ORPHA:404454
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure ORPHA:258
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
48,Xxxy Syndrome
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Obesity, T... ORPHA:96263
Tay-Sachs Disease
Dysmetria, Dystonia, Memory impairment, Anxiety, Inability to walk, Gait disturbance, Laryngeal d... ORPHA:845
Niemann-Pick Disease Type C
Cognitive impairment, Dystonia, Low frustration tolerance, Intention tremor, Axial dystonia, Abno... ORPHA:646
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure... ORPHA:466943
Kinsship Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Myo... OMIM:619297
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Abnormal social behavior, Gait ataxia, Emotional lability, Progressive gait ataxia, Tip... ORPHA:309256
Stiff-Person Syndrome
Opisthotonus, Anxiety, Exaggerated startle response, Depression, Agoraphobia OMIM:184850
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Failure to thrive, Inability to walk, Attention deficit hyperactivity disorder OMIM:617864
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Memory impairment, Intention tremor, Abnormal social behavior, Ataxia, Aggressive beha... ORPHA:314647
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure ORPHA:466950
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Febrile seizure (within t... ORPHA:268261
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:2636
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Seizure, Typical absence seizure ORPHA:352665
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait, Slender build ORPHA:93932
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Cognitive impairment, Exaggerated startle response OMIM:617527
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Abnormal social behavior, Anxiety, Obesity, Head-ba... ORPHA:177907
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Sotos Syndrome
Generalized myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Tuberous Sclerosis Complex
Abnormal social behavior, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, D... ORPHA:805
Mend Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Dystonia, Exaggerated startle response ORPHA:521426
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Inability to walk, Abnormal soc... ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Abnormal social behavior, Slender build, Anxiety, Inappropriate laught... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Abnormal social behavior, Slender build, Anxiety, Inappropriate laught... ORPHA:363958
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Mowat-Wilson Syndrome
Atypical absence seizure, Seizure, Focal-onset seizure, Status epilepticus ORPHA:2152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Seizure, Focal-onset seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Seizure, Focal-onset seizure ORPHA:261552
Williams Syndrome
Dysmetria, Failure to thrive in infancy, Abnormal social behavior, Anxiety, Obesity, Ataxia, Over... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Broad-based gait, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Non-Specific Syndromic Intellectual Disability
Impaired tandem gait, Decreased body weight, Panic attack, Attention deficit hyperactivity disorder ORPHA:528084
Alström Syndrome
Typical absence seizure 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 Gria4

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 Gria4.

No publications found that use IMPC mice or data for Gria4.

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MGI Allele Allele Type Produced
Gria4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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