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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
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Co... ORPHA:36387
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Aggressiv... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
1P36 Deletion Syndrome
Self-injurious behavior, EEG abnormality ORPHA:1606

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Atonic seizure, Focal-on... OMIM:300088
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:101039
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Personality disorder, Atonic seiz... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:86909
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness OMIM:618221
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Mental deterioration, Generalized non-motor ... OMIM:254800
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Co... ORPHA:36387
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Seizure, Eyelid myoclonus, Genera... OMIM:618357
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality ORPHA:436151
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Aggressiv... ORPHA:307
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Lack of pee... ORPHA:96369
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Gen... OMIM:617831
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... OMIM:615744
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Bilateral tonic-cl... ORPHA:139431
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Dravet Syndrome
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... ORPHA:33069
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... ORPHA:2590
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonic seizure, Seizure, Focal-onset seiz... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, A... ORPHA:1945
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Status epi... OMIM:271980
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Intellectual Developmental Disorder With Seizures And Language Delay
Anxiety, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Cognitive impairment, Focal impaired awareness seizure, Sei... ORPHA:65683
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Aggressive behavior, Irritability, Generalized non-motor (absence) seizure ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal tonic seizure, A... ORPHA:485350
Epilepsy, Progressive Myoclonic, 6
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure OMIM:614018
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
No social interaction, Aggressive behavior, Impaired social interactions ORPHA:329249
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Focal emotional... ORPHA:178469
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Bilateral Generalized Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavio... ORPHA:208447
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Polymicrogyria, Bilateral Temporooccipital
Seizure, Status epilepticus, Aggressive behavior, Focal impaired awareness seizure OMIM:612691
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
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
Late Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Typical absence seizure, Motor deterioration, Bilateral tonic-clonic seizure, Focal ton... ORPHA:168491
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Irrita... ORPHA:3006
Lafora Disease
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Seizure, A... ORPHA:501
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
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Anxiety, Generalized non-motor (abs... OMIM:300558
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... OMIM:619616
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Myoclonic Epilepsy Of Lafora
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Progressive neurologic deterioration, Bilate... OMIM:254780
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, EEG abnormality OMIM:300801
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Bilateral tonic-cloni... OMIM:617810
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Atonic seizure, Generalized tonic ... ORPHA:411986
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Simple febrile seizure, Ge... ORPHA:1942
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
Dementia, Motor deterioration, Social and occupational deterioration, Seizure, Mental deteriorati... ORPHA:168782
Developmental And Epileptic Encephalopathy 67
Seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure OMIM:618141
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure OMIM:611631
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Dej... ORPHA:98820
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Early onset a... ORPHA:79101
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Cognitive impairment, Focal impaired awareness seizure... ORPHA:1929
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Happy demeanor, Typical absence seizure ORPHA:576283
Unilateral Focal Polymicrogyria
Aggressive behavior, Focal impaired awareness seizure, Focal motor seizure, Seizure, Bilateral to... ORPHA:268947
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure ORPHA:544254
Nicolaides-Baraitser Syndrome
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:3051
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inappropriate crying, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:79351
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tonic seizure, Seizure, Status epilepticus, Hostility, Anxiety, Depression, Generalized non-motor... OMIM:300260
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Cognitive impairment, Seizure, Focal-onset seizure, Mental deteri... ORPHA:395
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, Focal impaired awareness seizure... OMIM:619428
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Apathy, Seizure, Status epilepticus, Irritability, Anxie... ORPHA:96147
Angelman Syndrome
Happy demeanor, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Aggres... ORPHA:72
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Generalized non-motor (absence) seizure, Inappropriat... ORPHA:363686
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Tonic seizure, Self-biting, Infantile spasms, Aggressive behavior... OMIM:300912
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Seizure, Atonic seizure,... ORPHA:95232
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Self-injurious behavior, Seizure, Generalized m... ORPHA:457351
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Kohlschutter-Tonz Syndrome-Like
Nocturnal seizures, Myoclonus, Seizure, Status epilepticus, Focal-onset seizure, Focal myoclonic ... OMIM:619229
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... ORPHA:435638
Tay-Sachs Disease
Typical absence seizure, Myoclonus, Focal impaired awareness seizure, Seizure, Anxiety, Depressio... ORPHA:845
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Dpm1-Cdg
Early onset absence seizures, Seizure, Atonic seizure, Generalized myoclonic seizure, Generalized... ORPHA:79322
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropriate laughter OMIM:615802
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Seizure, Generalized-onset seizure, Focal-onset seizure, Progressive languag... OMIM:610042
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, Se... ORPHA:466943
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Cognitive impairment, Generalized non-motor (absence) seizure, Focal-onset seizure ORPHA:258
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Emotional lability, Decreased nerve conduction velocity ORPHA:309263
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Borderline pers... ORPHA:466950
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Focal tonic seizure, Focal emotional seizure with laughing, Myoclonus, Atonic s... ORPHA:404454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizure... ORPHA:369837
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Kinsship Syndrome
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal-onset s... 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), Typical absence seizure, Bilateral... ORPHA:268261
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... ORPHA:513456
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
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:2636
Chronic Visceral Acid Sphingomyelinase Deficiency
Depression, Generalized non-motor (absence) seizure, Bipolar affective disorder ORPHA:77293
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Focal impaired awareness seizure, Seizure, A... ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Mowat-Wilson Syndrome
Happy demeanor, Oligomenorrhea, Chordee, Seizure, Status epilepticus, Focal-onset seizure, Anxiet... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Happy demeanor, Chordee, Seizure, Focal-onset seizure, Atypical absence seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Chordee, Seizure, Focal-onset seizure, Atypical absence seizure ORPHA:261552
Alström Syndrome
Oligospermia, Typical absence seizure, Cognitive impairment, Hypergonadotropic hypogonadism, Irre... ORPHA:64
1P36 Deletion Syndrome
Self-injurious behavior, EEG abnormality 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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