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Gene: Gabrd MGI:95622

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gamma-aminobutyric acid (GABA) A receptor, subunit delta
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gabrd 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 Gabrd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... ORPHA:307
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Cogniti... ORPHA:36387
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
1P36 Deletion Syndrome
Delayed speech and language development, Self-injurious behavior, EEG abnormality, Absent speech ORPHA:1606

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Continuous Spikes And Waves During Sleep
Aggressive behavior, Typical absence seizure, Seizure, Focal motor seizure, Cognitive impairment,... ORPHA:725
Developmental And Epileptic Encephalopathy 9
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... OMIM:300088
Lennox-Gastaut Syndrome
Aggressive behavior, Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myocl... ORPHA:2382
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Landau-Kleffner Syndrome
Generalized clonic seizure, Aggressive behavior, Social and occupational deterioration, Seizure, ... ORPHA:98818
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Myoclonus, Ge... ORPHA:86909
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Aggres... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Dementia, Bilateral tonic-clonic seizure, Mental deterioration, Generalized non-motor ... OMIM:254800
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... ORPHA:307
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... OMIM:618357
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Cogniti... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Lipoid Proteinosis Of Urbach And Wiethe
Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Memory i... OMIM:614018
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation, Lack of peer... ORPHA:96369
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... OMIM:617831
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Bilateral tonic-clonic ... OMIM:616409
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Cognitive impairment,... ORPHA:65683
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety OMIM:619031
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Focal motor seizure, Seizure, Status epilepticus, Anxiety, Generalized non-mot... OMIM:617665
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619157
Dravet Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... ORPHA:33069
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... OMIM:618587
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... ORPHA:2590
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
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizure, Status epil... OMIM:271980
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
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
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... OMIM:616421
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, EEG with polyspike wave complexes, Delayed speech and ... OMIM:619000
Intellectual Developmental Disorder, X-Linked 9
Delayed speech and language development, Aggressive behavior, Anxiety OMIM:309549
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Mental deterioration OMIM:610003
Paroxysmal Exertion-Induced Dyskinesia
Aggressive behavior, Seizure, Irritability, Generalized non-motor (absence) seizure ORPHA:98811
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:618141
Clcn4-Related X-Linked Intellectual Disability Syndrome
Aggressive behavior, Self-injurious behavior, Seizure, Bipolar affective disorder, Myoclonus, Foc... ORPHA:485350
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... OMIM:617113
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... OMIM:619317
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Delayed speech and language development, Anxiety OMIM:618878
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Self-injurious behavior, Bilateral tonic-clonic seizure, Anxiety, Gene... OMIM:615637
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... OMIM:617711
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Focal impaired awareness seizure, Self-mutilation, Generalized non-motor (ab... OMIM:616521
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... OMIM:613855
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
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... ORPHA:501
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Pyridoxine-Dependent Epilepsy
Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Atonic seizure, E... ORPHA:3006
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Aggressive behavior, Typical absence seizure, Seizure, Foc... ORPHA:168491
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... OMIM:619616
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:615476
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure, Primary amenorrhea OMIM:616033
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... ORPHA:101070
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Anxiety, Generalized non-motor (abs... OMIM:300558
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Emotional lability OMIM:617028
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence... OMIM:617810
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc... OMIM:254780
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Myoclonus, Atonic seizure, Focal impaired awareness seizure, Infantile... ORPHA:411986
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Seizure, Motor deteriora... ORPHA:168782
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Focal-onset seizure, Generalized myoclonic seizure, Generalized... ORPHA:1942
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Eyelid myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:619913
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic absence seizure OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, A... OMIM:617600
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... ORPHA:79101
Satb2-Associated Syndrome Due To A Pathogenic Variant
Happy demeanor, Seizure, Typical absence seizure ORPHA:576283
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Generalized-onset seizure, Aggressive behavior, Self-injurious behavior, ... OMIM:619827
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... OMIM:618170
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Bilateral tonic-clonic seizure with focal onset, Self-injurious behavior, Focal-onset seizure, Bi... OMIM:618354
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hostility, Seizure, Status epilepticus, Tonic seizure, Depression, Anxiety, Generalized non-motor... OMIM:300260
Syngap1-Related Developmental And Epileptic Encephalopathy
Eating-induced seizure, Generalized-onset seizure, Myoclonic absence seizure ORPHA:544254
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Periventricular Nodular Heterotopia 7
Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:617201
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Hypogonadism, Inappropriate crying, Generalized myoclonic ... ORPHA:79351
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure ORPHA:467166
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Inappropriate laughter, Self-mutilation, Generalized non-motor (absenc... ORPHA:363686
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral toni... ORPHA:395
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Apathy, Status epilepticus, Depression, Anxiety, Epileptic spasm, Irritability, Generali... ORPHA:96147
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure OMIM:613839
Angelman Syndrome
Aggressive behavior, Self-injurious behavior, Seizure, Myoclonus, Generalized myoclonic seizure, ... ORPHA:72
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Intellectual Developmental Disorder, X-Linked 98
Aggressive behavior, Self-biting, Generalized myoclonic seizure, Status epilepticus, Tonic seizur... OMIM:300912
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Seizure, Focal motor seizure, Generalized myoclonic seizure, Atonic se... ORPHA:95232
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive beha... OMIM:616973
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Self-injurious behavior, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:457351
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Seizure, Focal-onset seizure, Myoclonus, S... OMIM:619229
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Aggressive behavior, ... OMIM:610042
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Tay-Sachs Disease
Typical absence seizure, Seizure, Myoclonus, Focal impaired awareness seizure, Depression, Anxiet... ORPHA:845
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:301091
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Inappropriate laughter, Generalized non-motor (absence) seizure OMIM:615802
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Dpm1-Cdg
Generalized tonic seizure, Seizure, Generalized myoclonic seizure, Early onset absence seizures, ... ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ir... OMIM:617798
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-injuriou... ORPHA:466943
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Cognitive impairment, Seizure, Generalized non-motor (absence) seizure ORPHA:258
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Typical absence... OMIM:619777
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Focal emotional seizure with laughing, Myoclonus, Focal tonic seizure, Generalized myoclonic seiz... ORPHA:404454
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Typical absence seizure, Self-injurious behavior, Borderline personality dis... ORPHA:466950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Typical absen... ORPHA:268261
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Happy demeanor, Tonic seizure, Anxiety, Irritability OMIM:615873
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Seizure, Self-injurious behavior, Generalized non-motor (absence)... OMIM:612474
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... ORPHA:513456
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:2636
Chronic Visceral Acid Sphingomyelinase Deficiency
Bipolar affective disorder, Generalized non-motor (absence) seizure, Depression ORPHA:77293
Sotos Syndrome
Decreased fertility, Aggressive behavior, Seizure, Generalized myoclonic seizure, Bilateral tonic... ORPHA:821
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Atonic seizure, Typical absence seizure OMIM:617157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Mowat-Wilson Syndrome
Seizure, Focal-onset seizure, Oligomenorrhea, Status epilepticus, Happy demeanor, Anxiety, Atypic... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Seizure, Focal-onset seizure, Happy demeanor, Atypical absence seizure, Chordee ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Seizure, Focal-onset seizure, Happy demeanor, Atypical absence seizure, Chordee ORPHA:261552
Alström Syndrome
Irregular menstruation, Typical absence seizure, Cognitive impairment, Decreased fertility in mal... ORPHA:64
1P36 Deletion Syndrome
Delayed speech and language development, Self-injurious behavior, EEG abnormality, Absent speech ORPHA:1606

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 Gabrd

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 Gabrd.

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

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MGI Allele Allele Type Produced
Gabrdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabrdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gabrdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gabrdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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