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Gene: Gabra3 MGI:95615

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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 type A receptor subunit alpha 3
Synonyms:
Gabra-3

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 Gabra3 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 Gabra3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyrotoxic Periodic Paralysis
Tremor ORPHA:79102
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
OMIM:301091

The table below shows human diseases predicted to be associated to Gabra3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, Dystonia ORPHA:500180
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dystonia ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... ORPHA:98794
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Histidinemia
Hyperactivity ORPHA:2157
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Inte... OMIM:610217
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation, Hand tremor ORPHA:424
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia ORPHA:438216
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Dysphagia, Dysmetria, Gait disturbance, ... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Choreoathetosis, Blepharospasm, G... OMIM:234200
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dysphagia, Dystonia, Stereotyp... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Thyrotoxic Periodic Paralysis
Tremor ORPHA:79102
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
OMIM:301091

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 Gabra3

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 Gabra3.

No publications found that use IMPC mice or data for Gabra3.

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MGI Allele Allele Type Produced
Gabra3tm368851(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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