HELP     Sign In
Search

Relevance to Autism

Rare variants in the GABRB3 gene have been identified with autism (e.g. Cook et al., 1998) and genetic association has been found between GABRB3 and childhood absence epilepsy (CAE) (Urak et al., 2006). As well, a number of studies have found genetic association between the GABRB3 gene and autism (including one that enriched for savant skills). Populations studied include Caucasian, African-American, Hispanic, as well as AGRE, SARC and CLSA cohorts. However, other studies found no genetic association between the GABRB3 gene and autism in IMGSAC and other cohorts.

Molecular Function

The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predominantly mediated by a gated chloride channel activity intrinsic to the receptor.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.
ASD
Positive Association
Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13.
ASD
Positive Association
Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.
ASD
ALTs
Positive Association
Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.
ASD
Positive association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
Positive Association
Association between a GABRB3 polymorphism and autism.
ASD
Positive Association
Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
ASD
Positive Association
An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.
ASD
Positive Association
An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder.
ASD
Positive Association
A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.
ASD
Negative association
Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
ASD
Negative Association
Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.
ASD
Negative Association
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD, epilepsy
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Highly Cited
GABAA-receptor heterogeneity in the adult rat brain: differential regional and cellular distribution of seven major subunits.
Recent recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children.
Recent Recommendation
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
Recent Recommendation
Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.
Recent Recommendation
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder.
Recent Recommendation
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
CAE

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN101R001 
 copy_number_gain 
 N/A 
 N/A 
 Familial 
 Maternal 
  
 GEN101R002 
 missense_variant 
 C87T 
 p.Pro11Ser 
 Familial 
  
  
 GEN101R003 
 missense_variant 
 sub(C->T) 
 M->I:163/474;M->I:219/530;M->I:78/389 
 De novo 
  
 Simplex 
 GEN101R004 
 copy_number_gain 
  
  
 De novo 
  
 Simplex 
 GEN101R005 
 missense_variant 
 T/C 
  
 De novo 
  
  
 GEN101R006 
 missense_variant 
 T/C 
  
 De novo 
  
  
 GEN101R007 
 missense_variant 
 C/T 
  
 De novo 
  
  
 GEN101R008 
 missense_variant 
 T/C 
  
 De novo 
  
  
 GEN101R009 
 2KB_upstream_variant 
 g.-1571T>C 
  
 Unknown 
 Not maternal 
 Multiplex 
 GEN101R010 
 2KB_upstream_variant 
 g.-1528T>C 
  
 Familial 
 Maternal 
 Simplex 
 GEN101R011 
 indel, 2KB_upstream_variant 
 g.-1533_-1526delCCTCATAinsTCCATTAGACAAAAGTCTG 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R012 
 2KB_upstream_variant 
 g.-1442G>A 
  
 Unknown 
 Not maternal 
 Multi-generational 
 GEN101R013 
 2KB_upstream_variant 
 g.-1437G>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R014 
 2KB_upstream_variant 
 g.-1090A>G 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R015 
 2KB_upstream_variant 
 g.-541T>C 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R016 
 2KB_upstream_variant 
 g.-534C>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R017 
 2KB_upstream_variant 
 g.-232G>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R018 
 2KB_upstream_variant 
 g.-169T>G 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R019 
 2KB_upstream_variant 
 g.-142G>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R020 
 2KB_upstream_variant 
 g.-142G>T 
  
 Familial 
 Maternal 
 Simplex 
 GEN101R021 
 2KB_upstream_variant 
 g.-140A>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R022 
 2KB_upstream_variant 
 g.-53G>T 
  
 Familial 
 Paternal 
 Simplex 
 GEN101R023 
 missense_variant 
 c.557C>T 
 T186M 
 Familial 
 Paternal 
 Simplex 
 GEN101R024 
 synonymous_variant 
 c.942C>T 
 F314F 
 Familial 
 Paternal 
 Simplex 
 GEN101R025 
 missense_variant 
 c.1006C>T 
 P336S 
 Familial 
 Maternal 
 Simplex 
 GEN101R026 
 frameshift_variant 
 del(A) 
  
 De novo 
  
 Simplex 
 GEN101R027 
 stop_gained 
 C/A 
 E24Ter 
 Unknown 
  
 Unknown 
 GEN101R028 
 frameshift_variant 
 ins(A) 
  
 Unknown 
  
 Unknown 
 GEN101R029 
 missense_variant 
 A/G 
 I/T 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN101C001 
 intron_variant 
  
 N/A 
 N/A 
 Caucasian, African-American, Hispanic 
 Discovery 
 GEN101C002 
 intron_variant 
  
 N/A 
 N/A 
 AGRE, SARC 
 Discovery 
 GEN101C003 
 intron_variant 
  
 N/A 
 N/A 
 AGRE, SARC 
 Discovery 
 GEN101C004 
 microsatellite 
  
 N/A 
 N/A 
 CLSA 
 Discovery 
 GEN101C005 
 intergenic_variant 
 hCV2911914 
 C/G 
 N/A 
 98% Caucasian 
 Discovery 
 GEN101C006 
 intron_variant 
 rs1432007 
 A/G 
 N/A 
 98% Caucasian 
 Discovery 
 GEN101C007 
 intron_variant 
 hCV2901140 
 T/C 
 N/A 
 98% Caucasian 
 Discovery 
 GEN101C008 
 intron_variant 
 rs4542636 
 T/C 
 N/A 
 98% Caucasian 
 Discovery 
 GEN101C009 
 intron_variant 
 rs878960 
 C/T 
 N/A 
 98% Caucasian 
 Discovery 
 GEN101C010 
 microsatellite 
  
 N/A 
 N/A 
  
 Discovery 
 GEN101C011 
 intron_variant 
 rs890317 
 N/A 
 N/A 
 Caucasian 
 Discovery 
 GEN101C012 
 2KB_upstream_variant 
 rs4273008 
 T/G 
 N/A 
  
 Discovery 
 GEN101C013 
 2KB_upstream_variant 
 rs4243768 
 G/A 
 N/A 
  
 Discovery 
 GEN101C014 
 2KB_upstream_variant 
 rs4906902 
 T/C 
 N/A 
  
 Discovery 
 GEN101C015 
 2KB_upstream_variant 
 rs8179184 
 G/A 
 N/A 
  
 Discovery 
 GEN101C016 
 2KB_upstream_variant 
 rs7171660 
 T/C 
 N/A 
  
 Discovery 
 GEN101C017 
 2KB_upstream_variant 
 rs4364842 
 T/C 
 N/A 
  
 Discovery 
 GEN101C018 
 2KB_upstream_variant 
 rs4906901 
 T/G 
 N/A 
  
 Discovery 
 GEN101C019 
 2KB_upstream_variant 
 rs20317 
 G/C 
 N/A 
  
 Discovery 
 GEN101C020 
 missense_variant, 2_KB_upstream_variant 
 rs25409 
 G31A 
 N/A 
  
 Discovery 
 GEN101C021 
 synonymous_variant, 2KB_upstream_variant 
 rs20318 
 G75A 
 p.(=) 
  
 Discovery 
 GEN101C022 
 2KB_upstream_variant 
  
 C473A 
 N/A 
  
 Discovery 
 GEN101C023 
 2KB_upstream_variant 
  
 C662T 
 N/A 
  
 Discovery 
 GEN101C024 
 intron_variant 
 rs25408 
 G1335A 
 N/A 
  
 Discovery 
 GEN101C025 
 intron_variant 
 rs7180158 
 A/G 
 Intronic 
 Cases: 118 individuals with a DSM-IV or ICD-10 diagnosis of Asperger syndrome; controls: 412 individuals with an Autism Spectrum Quotient score below 24. All individuals of Caucasian ancestry. 
 Discovery 
 GEN101C026 
 intron_variant 
 rs7165604 
 C/T 
 Intronic 
 Cases: 118 individuals with a DSM-IV or ICD-10 diagnosis of Asperger syndrome; controls: 412 individuals with an Autism Spectrum Quotient score below 24. All individuals of Caucasian ancestry. 
 Discovery 
 GEN101C027 
 intron_variant 
 rs12593579 
 C/A 
 Intronic 
 Cases: 118 individuals with a DSM-IV or ICD-10 diagnosis of Asperger syndrome; controls: 412 individuals with an Autism Spectrum Quotient score below 24. All individuals of Caucasian ancestry. 
 Discovery 
 GEN101C028 
 intron_variant 
 rs11636966 
 T/C 
 Intronic 
 413 individuals of Caucasian ancestry without a clinical diagnosis of Asperger syndrome 
 Discovery 
 GEN101C029 
 intron_variant 
 rs9806546 
 A/G 
 Intronic 
 413 individuals of Caucasian ancestry without a clinical diagnosis of Asperger syndrome 
 Discovery 



Model Summary

Loss of Gabrb3 is sufficient to cause phenotypic traits that have marked similarities to the clinical features of Angelman Syndrome

External Links

AllenBrainAtlas   MGI Logo  Entrez Gene

References

Type
Title
Author, Year
Additional
GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior.
Additional
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder.
Additional
Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.
Primary
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.
Additional
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

GABRB3_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination to disrupt promoter and exons 1-3 of gabrb3 gene
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57B1/6J x 129/SvJ
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

GABRB3_3_KO_HT_m

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination to disrupt promoter and exons 1-3 of gabrb3 gene derived maternally
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J X 129Sv/SvJ
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

GABRB3_4_KO_HT_p

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination to disrupt promoter and exons 1-3 of gabrb3 gene derived paternally
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J X 129Sv/SvJ
ES Cell Line: R3
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

GABRB3_5_KO_HT_p

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted replacement of 2.8kb of genomic DNA containing the promter and exons 1-3 of Gabrb3 gene derived paternally
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not specified
Model Source: Not Specified

GABRB3_6_KO_HT_m

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted replacement of 2.8kb of genomic DNA containing the promter and exons 1-3 of Gabrb3 gene derived paternally
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not specified
Model Source: Not Specified

GABRB3_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination to disrupt promoter and exons 1-3 of gabrb3 gene
Allele Type: Targeted(Knock-Out)
Strain of Origin: Not Specified
Genetic Background: C57B1/6J x 129/SvJ
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

GABRB3_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Locomotor activity in diurnal cycle3
Abnormal
Description: Abnormal rest-activity pattern: Increased average activity period, Increased total time spent in individual activity
Exp Paradigm: Motion monitoring
 Home cage behavior
 Unreported
General locomotor activity2
Increased
Description: Increased baseline locomotor activity
Exp Paradigm: General observations
 General observations
 16-52 weeks
Hyperactivity3
Increased
Description: Increased hyperactivity
Exp Paradigm: Crossover activity; Burst activity tests
 Novel cage test: crossovers
 Unreported
General locomotor activity1
Increased
Description: Increased locomotor activity
Exp Paradigm: Open field test
 Open field test
 Unreported
Motor coordination and balance3
Decreased
Description: Decreased motor coordination demonstrated by failure to improve performance on rotarod test
Exp Paradigm: Rota-rod test for motor performance and coordination
 Accelerating rotarod test
 Unreported
Brain size2
Decreased
Description: Decreased surface area of cerebellar vermal lobules II, III, IV & V, and VI & VII
Exp Paradigm: Semi-quantitative measurement of sagittal surface area of cerebella vermal lobules
 Histology
 51-52 weeks
Circling3
Increased
Description: Increased circling behavior in clockwise or counterclockwise direction
Exp Paradigm: General observations
 Home cage behavior: circling
 Unreported
Circling2
Increased
Description: Increased circling behavior
Exp Paradigm: General observations
 General observations
 24-52 weeks
Electroencephalogram (EEG): signature of seizure/epilepsy1
Increased
Description: Significantly increased slow wave activity
Exp Paradigm: Visual examination of 45-min EEG recordings
 Electroencephalogram (EEG)
 2-10 months
Seizures3
Abnormal
Description: Abnormal Seizure: Intermittent slowing of EEG background
Exp Paradigm: Electroencephalography
 Electroencephalogram (EEG)
 8 weeks
Electroencephalogram (EEG): signature of seizure/epilepsy1
Abnormal
Description: Abnormal EEG waves: Disorganized high-amplitude electrocortical activity with groups of sharp waves, spontaneous clonic Seizures
Exp Paradigm: Electroencephalography
 Electroencephalogram (EEG)
 2-10 months
Seizures3
Abnormal
Description: Abnormal Seizure: Frequent interruptions by bursts of slowing, irregular high amplitude slow and sharp waves and small spikes coinciding with behavioral quiescence; High amplitutde interictal spikes with strong myoclonic jerks
Exp Paradigm: Electroencephalography
 Electroencephalogram (EEG)
 8-20 weeks
Seizures3
Abnormal
Description: Effective suppressing of clonic jerks by Ethosuximide; Abnormal efficacy of Clonazepam, VPA, and GABAB antagonist CGP 35348; Abnormal efficacy leading to precipitation of Seizures by Carbamazepine, THIP, and baclofen
Exp Paradigm: Antiepileptic drug (AED)
 Electroencephalogram (EEG)
 Unreported
Inanimate object preference2
Abnormal
Description: Abnormal novel inanimate object preference: Decreased time spent investigating novel object, Decreased number of contacts with novel object
Exp Paradigm: Interaction with novel objects in open field
 Open field test
 24-52 weeks
Social approach2
Abnormal
Description: Abnormal Social approach: Increased preference for neutral chamber
Exp Paradigm: Social preference test in tripartite chamber
 Three-chamber social approach test
 16-52 weeks
Nest building behavior2
Abnormal
Description: Abnormal nest building behavior: Decreased complexity of nests, Abnormal location of nests away from wall or corners; Decreased use of nests
Exp Paradigm: Observation of interaction with nesting material
 General observations
 16-52 weeks
Social interaction2
Decreased
Description: Decreased exploratory activity demonstrated by lower frequency of rearing activity
Exp Paradigm: Rearing test for exploratory activity
 Novel object interaction test: rearing behavior
 24-52 weeks
Cued or contextual fear conditioning: Memory of context3
Abnormal
Description: Abnormal contextual fear conditioning: Decreased freezing behavior
Exp Paradigm: Pavlovian fear conditioning followed by measurement of freezing response in absence of foot shock
 Fear conditioning test: contextual and acoustic cue-dependent
 Unreported
Spatial reference memory1
Decreased
Description: Decreased spatial reference memory
Exp Paradigm: Comparison of activity in open field test between two trials
 Open field test
 Unreported
Spatial reference memory3
Abnormal
Description: Abnormal spatial reference memory as demonstrated by poor retention in the learned step-through passive avoidance task
Exp Paradigm: Passive avoidance retention test
 Passive avoidance test
 Unreported
Protein expression level evidence1
Decreased
Description: Absence of protein expression from whole brain extracts
Exp Paradigm: 3 Subunit Protein Expression
 Western blot
 6-8 weeks
Pain or nociception3
 No Change
 Foot shock test
 Unreported
Social interaction2
 No Change
 Three-chamber social approach test
 16-52 weeks
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

GABRB3_3_KO_HT_m

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroencephalogram (EEG): signature of seizure/epilepsy1
Increased
Description: Increased rhythmic and oscillatory short waves; Increased theta-frequency events; No Change in EEG power
Exp Paradigm: Electroencephalography; EEG Power analysis in 1-Hz frequency bins across the 2-15 Hz interval of female mice
 Electroencephalogram (EEG)
 2-10 months
Electroencephalogram (EEG): signature of seizure/epilepsy1
Abnormal
Description: Small effect on frequency distribution of EEG
Exp Paradigm: Analysis of EEG recording after carbamazepine, 20 mg/kg administration using Fast Fourier Transformation (FFT) in female mice
 Electroencephalogram (EEG)
 Unreported
Electroencephalogram (EEG): signature of seizure/epilepsy1
Increased
Description: Increased rhythmic and oscillatory short waves; Increased theta-frequency events abolished by administration of Ethosuximide; Increased EEG power at 5-10 Hz
Exp Paradigm: Electroencephalography simultaneous to pharmacological manipulation; EEG Power analysis in 1-Hz frequency bins across the 2-15 Hz interval of male mice
 Electroencephalogram (EEG)
 2-10 months
Electroencephalogram (EEG): signature of seizure/epilepsy1
Increased
Description: Significantly increased slow wave activity
Exp Paradigm: Visual examination of 45-min EEG recordings
 Electroencephalogram (EEG): slow wave monitoring
 Unreported
Electroencephalogram (EEG): signature of seizure/epilepsy1
Abnormal
Description: Small effect on frequency distribution of EEG
Exp Paradigm: Analysis of EEG recording after carbamazepine, 20 mg/kg administration using Fast Fourier Transformation (FFT) in male mice
 Electroencephalogram (EEG)
 Unreported
Cued or contextual fear conditioning: Memory of context1
Increased
Description: Increased contextual learning demonstrated by decrease in locomotor activity between trials
Exp Paradigm: Comparison of activity of female mice in open field test between two trials
 Open field test
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased 3 subunit protein expression
Exp Paradigm: 3 Subunit Protein Expression
 Western blot
 6-8 weeks
Cued or contextual fear conditioning: Memory of context1
 No Change
 Open field test
 Unreported
General locomotor activity1
 No Change
 Open field test
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Maternal behavior ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Sensory ,   Social behavior ,  

GABRB3_4_KO_HT_p

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroencephalogram (EEG): signature of seizure/epilepsy1
Decreased
Description: Decreased oscillatory and rhythmic activity, with fewer theta bursts; frequent isolated sharp waves of 2-3 times baseline amplitude; Decreased sigma - frequency activity and increased delta - frequency activity
Exp Paradigm: Electroencephalography; EEG Power analysis in 1-Hz frequency bins across the 2-15 Hz interval of female mice
 Electroencephalogram (EEG)
 2-10 months
Electroencephalogram (EEG): signature of seizure/epilepsy1
Abnormal
Description: Large deviations in frequency distribution in EEG power distribution
Exp Paradigm: Analysis of EEG recording after carbamazepine, 20 mg/kg administration using Fast Fourier Transformation (FFT) in female mice
 Electroencephalogram (EEG)
 Unreported
Electroencephalogram (EEG): signature of seizure/epilepsy1
Decreased
Description: Decreased oscillatory and rhythmic activity, with fewer theta bursts; frequent isolated sharp waves of 2-3 times baseline amplitude; Increased sigma - frequency activity and decreased delta - frequency activity
Exp Paradigm: Electroencephalography; EEG Power analysis in 1-Hz frequency bins across the 2-15 Hz interval of male mice
 Electroencephalogram (EEG)
 2-10 months
Electroencephalogram (EEG): signature of seizure/epilepsy1
Abnormal
Description: Large deviations in frequency distribution in EEG power distribution
Exp Paradigm: Analysis of EEG recording after carbamazepine, 20 mg/kg administration using Fast Fourier Transformation (FFT) in male mice
 Electroencephalogram (EEG)
 Unreported
Cued or contextual fear conditioning: Memory of context1
Increased
Description: Increased contextual learning demonstrated by decrease in locomotor activity between trials
Exp Paradigm: Comparison of activity of female mice in open field test between two trials
 Open field test
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased 3 subunit protein expression
Exp Paradigm: 3 Subunit Protein Expression
 Western blot
 6-8 weeks
Protein expression level evidence1
Decreased
Description: Limited decrease in 3 subunit protein expression from whole brain extracts
Exp Paradigm: 3 Subunit Protein Expression
 Western blot
 6-8 weeks
Cued or contextual fear conditioning: Memory of context1
 No Change
 Open field test
 Unreported
General locomotor activity1
 No Change
 Open field test
 Unreported
Electroencephalogram (EEG): signature of seizure/epilepsy1
 No Change
 Electroencephalogram (EEG)
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Maternal behavior ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Sensory ,   Social behavior ,  

GABRB3_5_KO_HT_p

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance1
Decreased
Description: Decreased muscle coordination demonstrated by saturation of performance on rotarod
Exp Paradigm: Male Mice: Rota-rod test for motor performance and coordination
 Accelerating rotarod test
 Unreported
Seizures1
Increased
Description: Increased sensitivity to Pentylenetetrazol (PTZ) induced Seizures
Exp Paradigm: Female Mice: Seizure measurements using Schwaller et. Al method after administration of 35 mg/kg PTZ i.p.
 Observation of chemically induced seizures: PTZ
 Unreported
Seizures1
Increased
Description: Increased sensitivity to Pentylenetetrazol (PTZ) induced Seizures
Exp Paradigm: Male Mice: Seizure measurements using Schwaller et. Al method after administration of 35 mg/kg PTZ i.p.
 Observation of chemically induced seizures: PTZ
 Unreported
Acoustic startle reflex1
Decreased
Description: Decreased acoustic startle reflex at acoustic intensities between 100 and 120 dB
Exp Paradigm: Female Mice: Acoustic startle reflex at varying acoustic intensities
 Prepulse inhibition
 Unreported
Acoustic startle reflex1
Decreased
Description: Decreased acoustic startle reflex at acoustic intensities between 100 and 120 dB
Exp Paradigm: Male Mice: Acoustic startle reflex at varying acoustic intensities
 Prepulse inhibition
 Unreported
Grip strength1
 No Change
 Wire hang test
 15 weeks
Grip strength1
 No Change
 Wire hang test
 12 weeks
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 Unreported
Repetitive digging1
 No Change
 Marble-burying test
 Unreported
Repetitive digging1
 No Change
 Marble-burying test
 Unreported
Pain or nociception1
 No Change
 Paw withdrawal test
 Unreported
Pain or nociception1
 No Change
 Paw withdrawal test
 Unreported
Sensorimotor gating1
 No Change
 Prepulse inhibition
 Unreported
Sensorimotor gating1
 No Change
 Prepulse inhibition
 Unreported
Touch1
 No Change
 Von Frey filament test
 Unreported
Touch1
 No Change
 Von Frey filament test
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Social behavior ,  

GABRB3_6_KO_HT_m

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance1
Decreased
Description: Decreased muscle coordination demonstrated by saturation of performance on rotarod
Exp Paradigm: Male Mice: Rota-rod test for motor performance and coordination
 Accelerating rotarod test
 Unreported
Motor coordination and balance1
Decreased
Description: Decreased muscle coordination demonstrated by saturation of performance on rotarod
Exp Paradigm: Female Mice: Rota-rod test for motor performance and coordination
 Accelerating rotarod test
 Unreported
Repetitive digging1
Decreased
Description: Decreased number of buried marbles
Exp Paradigm: Male Mice: Marble-burying test
 Marble-burying test
 Unreported
Repetitive digging1
Decreased
Description: Decreased number of buried marbles
Exp Paradigm: Female Mice: Marble-burying test
 Marble-burying test
 Unreported
Seizures1
Increased
Description: Increased sensitivity to Pentylenetetrazol (PTZ) induced Seizures
Exp Paradigm: Male Mice: Seizure measurements using Schwaller et. Al method after administration of 35 mg/kg PTZ i.p.
 Observation of chemically induced seizures: PTZ
 Unreported
Seizures1
Increased
Description: Increased sensitivity to Pentylenetetrazol (PTZ) induced Seizures
Exp Paradigm: Female Mice: Seizure measurements using Schwaller et. Al method after administration of 35 mg/kg PTZ i.p.
 Observation of chemically induced seizures: PTZ
 Unreported
Acoustic startle reflex1
Decreased
Description: Decreased acoustic startle reflex at acoustic intensities between 100 and 120 dB
Exp Paradigm: Male Mice: Acoustic startle reflex at varying acoustic intensities
 Prepulse inhibition
 Unreported
Sensorimotor gating1
Increased
Description: Increased sensorimotor gating demonstrated by increase in pre-pulse inhibition
Exp Paradigm: Male Mice: Prepulse inhibition of the acoustic startle response around 70 to 80 db as a measure of sensorimotor gating.
 Prepulse inhibition
 Unreported
Acoustic startle reflex1
Decreased
Description: Decreased acoustic startle reflex at acoustic intensities between 100 and 120 dB
Exp Paradigm: Female Mice: Acoustic startle reflex at varying acoustic intensities
 Prepulse inhibition
 Unreported
Pain or nociception1
Increased
Description: Increased sensitivity to heat
Exp Paradigm: Male Mice: Hargreaves heat sensitivity test
 Paw withdrawal test
 Unreported
Touch1
Increased
Description: Increased sensitivity to mechanical touch measured by hind-paw withdrawl
Exp Paradigm: Male Mice: von Frey filaments to hind-paw
 Von Frey filament test
 Unreported
Grip strength1
 No Change
 Wire hang test
 15 weeks
Grip strength1
 No Change
 Wire hang test
 12 weeks
Pain or nociception1
 No Change
 Paw withdrawal test
 Unreported
Sensorimotor gating1
 No Change
 Prepulse inhibition
 Unreported
Touch1
 No Change
 Von Frey filament test
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Social behavior ,  

GABRB3_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Seizures1
Abnormal
Description: Abnormal Seizure: Intermittent slowing of EEG background
Exp Paradigm: Electroencephalography
 Electroencephalogram (EEG)
 8 weeks
Seizures1
Abnormal
Description: Abnormal Seizure: Frequent interruptions by bursts of slowing, irregular high amplitude slow and sharp waves and small spikes coinciding with behavioral quiescence; High amplitutde interictal spikes with strong myoclonic jerks
Exp Paradigm: Electroencephalography
 Electroencephalogram (EEG)
 8-20 weeks
Seizures1
Abnormal
Description: Effective suppressing of clonic jerks by Ethosuximide; Abnormal efficacy of Clonazepam, VPA, and GABAB antagonist CGP 35348; Abnormal efficacy leading to precipitation of Seizures by Carbamazepine, THIP, and baclofen
Exp Paradigm: Antiepileptic drug (AED)
 Electroencephalogram (EEG)
 Unreported
Locomotor activity in diurnal cycle1
 No Change
 Home cage behavior
 Unreported
Cued or contextual fear conditioning: Memory of context1
 No Change
 Fear conditioning test: contextual and acoustic cue-dependent
 Unreported
Spatial reference memory1
 No Change
 Passive avoidance test
 Unreported
Hyperactivity1
 No Change
 Novel cage test: crossovers
 Unreported
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 Unreported
Pain or nociception1
 No Change
 Foot shock test
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune response ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Social behavior ,  


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CREB1 cAMP responsive element binding protein 1 1385 P16220 in silico target prediction; qRT-PCR
Drozdov I 2011
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr 2012
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Hogart A 2007
MEF2A myocyte enhancer factor 2A 4205 Q02078 Luciferase reporter assay
Pernhorst K 2011
SP1 Sp1 transcription factor 6667 P08047 in silico target prediction; qRT-PCR
Thanseem I 2012
Arx aristaless related homeobox 11878 O35085 ChIP-qPCR
Quillé ML 2011
CAMK2A calcium/calmodulin-dependent protein kinase II alpha 25400 P11275 in vitro kinase assay
McDonald BJ 1997
Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 14402 P63080 Electrophysiology
Wooltorton JR 1997
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 5566 P17612 in vitro kinase assay
McDonald BJ 1997
PRKG1 protein kinase, cGMP-dependent, type I 5592 Q13976 in vitro kinase assay
McDonald BJ 1997
AKAP5 A kinase (PRKA) anchor protein 5 9495 P24588 GST; IP/WB
Brandon NJ 2003
Ap2m1 adaptor-related protein complex 2, mu 1 subunit 116563 P84092 GST; Surface plasmon resonance (SPR)
Smith KR 2012
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 296380 Q7TSU1 Y2H; Far Western Blot
Charych EI 2004
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 29709 P18508 IP/WB
Sarto I 2002
GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2 like 1 83427 P63245 IP/WB
Jovanovic JN 2004
PPP2CA protein phosphatase 2, catalytic subunit, alpha isoform 24672 P63331 IP/WB; GST; WB
Jovanovic JN 2004
PRKCA protein kinase C, alpha 24680 Q9EP80 GST
Brandon NJ 2003
UBC ubiquitin C 50522 Q63429 IP/WB
Saliba RS 2007
UBQLN1 ubiquilin 1 114590 Q9JJP9 Y2H; IP/WB
Bedford FK 2001
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 282235 P08219 IP/WB
Pollard S 1991
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 282236 P10063 IP/WB
Pollard S 1991
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 282237 P10064 IP/WB
Pollard S 1991

HELP