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Relevance to Autism

Autistic features were observed in some affected individuals with intellectual diability caused by IQSEC2 mutations (Shoubridge et al., 2010; Tran Mau-Them et al., 2013).

Molecular Function

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene are a cause of Mental retardation, X-linked 1 (MRX1) [MIM:309530], a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
ID
Positive Association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
ASD, microcephaly
Support
Comorbidities associated with genetic abnormalities in children with intellectual disability
ASD, DD/ID
Support
Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
DD, ID
ASD, epilepsy/seizures
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
ID
Support
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
ID, epilepsy
Support
Whole genome sequencing of 45 Japanese patients with intellectual disability
DD, ID, epilepsy/seizures
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for ...
DD, epilepsy/seizures
Autistic features
Support
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
X-linked mental retardation 1 (MRX1), DD, ID, epil
ASD, ADHD
Support
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Epilepsy/seizures
DD, ID
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Epilepsy/seizures
DD/ID
Support
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
ID
Epilepsy/seizures
Support
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
ASD
Support
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
ID
ASD, epilepsy/seizures
Support
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
X-linked mental retardation-1, ID
ASD, epilepsy/seizures
Support
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.
ASD, ID, epilepsy/seizures
Developmental regression
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
DD, ID, epilepsy/seizures
Support
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
ID
Support
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy
X-linked mental retardation-1
DD, ID, epilepsy/seizures, Afs, stereotypy
Support
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
ID, epilepsy/seizures
ASD
Support
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
ID
DD
Support
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
Support
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
DD, ID, epilepsy/seizures
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, epilepsy/seizures
Support
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
ID, epilepsy/seizures
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ID
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Developmental regression
Support
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder
X-linked mental retardation-1
DD, SCZ, learning disability, psychosis, stereotyp
Recent recommendation
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
X-linked mental retardation 1 (MRX1)
Autistic behavior
Recent Recommendation
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN542R001 
 missense_variant 
 c.2587C>T 
 p.Arg863Trp 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R002 
 missense_variant 
 c.2402A>C 
 p.Gln801Pro 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R003 
 missense_variant 
 c.2273G>A 
 p.Arg758Gln 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R004 
 missense_variant 
 c.1075C>T 
 p.Arg359Cys 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R005 
 copy_number_gain 
  
  
 De novo 
 NA 
 Simplex 
 GEN542R006 
 stop_gained 
 c.2563C>T 
 p.Arg855Ter 
 De novo 
 NA 
 Simplex 
 GEN542R007 
 copy_number_gain 
  
  
 De novo 
 NA 
  
 GEN542R008 
 stop_gained 
 c.3322C>T 
 p.Gln1108Ter 
 De novo 
 NA 
  
 GEN542R009 
 stop_gained 
 c.3097C>T 
 p.Gln1033Ter 
 De novo 
 NA 
 Simplex 
 GEN542R010 
 inframe_deletion 
 c.-134_-132del 
  
 De novo 
 NA 
 Simplex 
 GEN542R011 
 missense_variant 
 c.1049C>A 
 p.Pro350His 
 Familial 
 Maternal 
 Multiplex 
 GEN542R012 
 frameshift_variant 
 c.2529_2535del 
 p.His843GlnfsTer62 
 De novo 
 NA 
 Simplex 
 GEN542R013 
 splice_site_variant 
 c.3116-3_3116-2del 
  
 Familial 
 Maternal 
 Multi-generational 
 GEN542R014 
 missense_variant 
 c.2582G>C 
 p.Ser861Thr 
 De novo 
 NA 
 Simplex 
 GEN542R015 
 frameshift_variant 
 c.2052_2053del 
 p.Cys684Ter 
 De novo 
 NA 
 Simplex 
 GEN542R016 
 missense_variant 
 c.2366C>T 
 p.Ala789Val 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R017 
 frameshift_variant 
 c.51_61del 
 p.Asn17LysfsTer62 
 De novo 
 NA 
  
 GEN542R018 
 stop_gained 
 c.2203C>T 
 p.Gln735Ter 
 De novo 
 NA 
  
 GEN542R019 
 frameshift_variant 
 c.3278-329dup 
  
 De novo 
 NA 
  
 GEN542R020 
 frameshift_variant 
 c.2679_2680insA 
 p.Asp894ArgfsTer10 
 De novo (germline mosaicism) 
  
 Multiplex 
 GEN542R021 
 missense_variant 
 c.2507C>T 
 p.Ala836Val 
 Familial 
 Maternal 
 Simplex 
 GEN542R022 
 frameshift_variant 
 c.804del 
 p.Tyr269ThrfsTer3 
 De novo 
 NA 
  
 GEN542R023 
 splice_site_variant 
 c.737+12259_737+12311del 
  
 Unknown 
 Not maternal 
 Simplex 
 GEN542R024 
 frameshift_variant 
 c.4335_4399del 
 p.His1446TrpfsTer139 
 Unknown 
 Not maternal 
 Simplex 
 GEN542R025 
 missense_variant 
 c.2678C>T 
 p.Thr893Ile 
 De novo 
 NA 
  
 GEN542R026 
 stop_gained 
 c.2317C>T 
 p.Leu773Phe 
 De novo 
 NA 
  
 GEN542R027 
 missense_variant 
 c.1049C>T 
 p.Ala350Val 
 De novo 
 NA 
  
 GEN542R028 
 stop_gained 
 c.280C>T;c.895C>T 
 p.Gln94Ter;p.Gln299Ter 
 De novo 
 NA 
 Simplex 
 GEN542R029 
 frameshift_variant 
 c.804del 
 p.Tyr269ThrfsTer3 
 De novo 
 NA 
 Simplex 
 GEN542R030 
 stop_gained 
 c.2548C>T;c.3163C>T 
 p.Arg850Ter;p.Arg1055Ter 
 Familial 
 Maternal 
 Simplex 
 GEN542R031 
 missense_variant 
 c.3065G>A 
 p.Arg1022His 
 De novo 
 NA 
 Simplex 
 GEN542R032 
 frameshift_variant 
 c.55_151delinsAT 
 p.Ala19IlefsTer32 
 De novo 
 NA 
  
 GEN542R033 
 stop_gained 
 c.97C>T 
 p.Gln33Ter 
 De novo 
 NA 
  
 GEN542R034 
 stop_gained 
 c.184C>T 
 p.Arg62Ter 
 De novo 
 NA 
  
 GEN542R035 
 frameshift_variant 
 c.588_610del 
 p.Arg197AlafsTer34 
 De novo 
 NA 
  
 GEN542R036 
 splice_site_variant 
 c.738-1G>A 
  
 Familial 
 Maternal 
 Multiplex 
 GEN542R037 
 splice_site_variant 
 c.738-1G>C 
  
 De novo 
 NA 
  
 GEN542R038 
 frameshift_variant 
 c.804del 
 p.Tyr269ThrfsTer3 
 De novo 
 NA 
  
 GEN542R039 
 frameshift_variant 
 c.804del 
 p.Tyr269ThrfsTer3 
 De novo 
 NA 
  
 GEN542R040 
 frameshift_variant 
 c.854del 
 p.Pro285LeufsTer21 
 De novo 
 NA 
  
 GEN542R041 
 frameshift_variant 
 c.1405_1406del 
 p.Lys469ValfsTer4 
 De novo 
 NA 
  
 GEN542R042 
 stop_gained 
 c.1510C>T 
 p.Gln504Ter 
 Unknown 
  
  
 GEN542R043 
 inframe_deletion 
 c.1567_2199delinsGGC 
 p.Thr523_Thr733delinsGly 
 De novo 
 NA 
  
 GEN542R044 
 frameshift_variant 
 c.1744_1763del 
 p.Arg582CysfsTer9 
 De novo 
 NA 
  
 GEN542R045 
 frameshift_variant 
 c.1983_1999del 
 p.Leu662GlnfsTer25 
 Unknown 
  
  
 GEN542R046 
 frameshift_variant 
 c.2078del 
 p.Gly693ValfsTer29 
 Unknown 
  
  
 GEN542R047 
 stop_gained 
 c.2272C>T 
 p.Arg758Ter 
 De novo 
 NA 
  
 GEN542R048 
 stop_gained 
 c.2272C>T 
 p.Arg758Ter 
 De novo 
 NA 
  
 GEN542R049 
 missense_variant 
 c.2278G>A 
 p.Gly760Ser 
 De novo 
 NA 
  
 GEN542R050 
 missense_variant 
 c.2312G>A 
 p.Gly771Asp 
 De novo 
 NA 
  
 GEN542R051 
 stop_gained 
 c.2317C>T 
 p.Gln773Ter 
 Unknown 
  
  
 GEN542R052 
 frameshift_variant 
 c.2317_2332del 
 p.Gln773GlyfsTer25 
 Unknown 
  
  
 GEN542R053 
 missense_variant 
 c.2354C>T 
 p.Pro785Leu 
 De novo 
 NA 
  
 GEN542R054 
 stop_gained 
 c.2776C>T 
 p.Arg926Ter 
 De novo 
 NA 
  
 GEN542R055 
 stop_gained 
 c.2854C>T 
 p.Gln952Ter 
 De novo 
 NA 
  
 GEN542R056 
 stop_gained 
 c.2962C>T 
 p.Gln988Ter 
 De novo 
 NA 
  
 GEN542R057 
 frameshift_variant 
 c.3079del 
 p.Leu1027SerfsTer75 
 De novo 
 NA 
  
 GEN542R058 
 stop_gained 
 c.3163C>T 
 p.Arg1055Ter 
 Unknown 
  
  
 GEN542R059 
 stop_gained 
 c.3163C>T 
 p.Arg1055Ter 
 De novo 
 NA 
  
 GEN542R060 
 missense_variant 
 c.3206G>C 
 p.Arg1069Pro 
 Familial 
 Maternal 
  
 GEN542R061 
 splice_site_variant 
 c.3277+2T>G 
  
 De novo 
 NA 
  
 GEN542R062 
 splice_site_variant 
 c.3277+5G>A 
  
 Familial 
 Maternal 
  
 GEN542R063 
 stop_gained 
 c.3278C>A 
 p.Ser1093Ter 
 De novo 
 NA 
  
 GEN542R064 
 stop_gained 
 c.3387C>A 
 p.Tyr1129Ter 
 De novo 
 NA 
  
 GEN542R065 
 stop_gained 
 c.3433C>T 
 p.Arg1145Ter 
 De novo 
 NA 
  
 GEN542R066 
 stop_gained 
 c.3433C>T 
 p.Arg1145Ter 
 Unknown 
 Not maternal 
  
 GEN542R067 
 frameshift_variant 
 c.3457del 
 p.Arg1153GlyfsTer244 
 De novo 
 NA 
  
 GEN542R068 
 frameshift_variant 
 c.4039dup 
 p.Ala1347GlyfsTer40 
 De novo 
 NA 
  
 GEN542R069 
 frameshift_variant 
 c.4401del 
 p.Gly1468AlafsTer27 
 Unknown 
 Not maternal 
  
 GEN542R070 
 missense_variant 
 c.2752G>T 
 p.Val918Phe 
 Familial 
 Maternal 
  
 GEN542R071 
 missense_variant 
 c.3415G>A 
 p.Ala1139Thr 
 Unknown 
  
 Multiplex 
 GEN542R072 
 missense_variant 
 c.3463C>T 
 p.Arg1155Trp 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R073 
 intron_variant 
 c.737+10385del 
  
 Familial 
 Maternal 
  
 GEN542R074 
 missense_variant 
 c.3412G>C 
 p.Gly1138Arg 
 De novo 
 NA 
 Simplex 
 GEN542R075 
 missense_variant 
 c.2507C>T 
 p.Ala836Val 
 De novo 
 NA 
 Simplex 
 GEN542R076 
 stop_gained 
 c.1591C>T 
 p.Arg531Trp 
 De novo 
 NA 
 Simplex 
 GEN542R077 
 missense_variant 
 c.2507C>T 
 p.Ala836Val 
 De novo 
 NA 
 Simplex 
 GEN542R078 
 missense_variant 
 c.2117A>G 
 p.Asn706Ser 
 Familial 
 Maternal 
 Simplex 
 GEN542R079 
 frameshift_variant 
 c.4418_4419insG 
 p.Ser1474GlnfsTer133 
 De novo 
 NA 
 Multiplex (monozygotic twins) 
 GEN542R080 
 stop_gained 
 c.3576C>T 
 p.Tyr1192= 
 De novo 
 NA 
 Multiplex 
 GEN542R081 
 frameshift_variant 
 c.104delinsGC 
 p.Gln35ArgfsTer48 
 De novo 
 NA 
 Simplex 
 GEN542R082 
 frameshift_variant 
 c.1240_1243del 
 p.Asp414ArgfsTer54 
 De novo 
 NA 
 Simplex 
 GEN542R083 
 stop_gained 
 c.3576C>T 
 p.Tyr1192= 
 De novo 
 NA 
 Simplex 
 GEN542R084 
 frameshift_variant 
 c.626_627delinsT 
 p.Ala209ValfsTer48 
 De novo 
 NA 
 Simplex 
 GEN542R085 
 frameshift_variant 
 c.4419dup 
 p.Ser1474GlnfsTer133 
 Familial 
 Maternal 
 Multiplex 
 GEN542R086 
 frameshift_variant 
 c.913del 
 p.Leu305Ter 
 Unknown 
  
 Multi-generational 
 GEN542R087 
 inframe_deletion 
 c.1076_1078del 
 p.Arg359del 
 Unknown 
  
 Simplex 
 GEN542R088 
 stop_gained 
 c.2272C>T 
 p.Arg758Ter 
 De novo 
 NA 
 Simplex 
 GEN542R089 
 splice_site_variant 
 c.2582+2T>C 
  
 De novo 
 NA 
 Simplex 
 GEN542R090 
 stop_gained 
 c.3817C>T 
 p.Gln1273Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN542R091 
 missense_variant 
 c.2507C>T 
 p.Ala836Val 
 Unknown 
 Not maternal 
 Multiplex 
 GEN542R092 
 frameshift_variant 
 c.4419del 
 p.Ser1474ValfsTer21 
 De novo 
 NA 
 Simplex 
 GEN542R093 
 missense_variant 
 c.-94G>C 
  
 Familial 
 Maternal 
 Multiplex 
 GEN542R094 
 frameshift_variant 
 c.849_850insG 
 p.Pro284AlafsTer41 
 De novo 
 NA 
 Multiplex 
 GEN542R095 
 frameshift_variant 
 c.1170dup 
 p.Gln391AlafsTer5 
 De novo 
 NA 
 Simplex 
 GEN542R096 
 missense_variant 
 c.770G>A 
 p.Ser257Asn 
 Familial 
 Maternal 
 Extended multiplex 
 GEN542R097 
 frameshift_variant 
 c.1813_1814del 
 p.Asp605ProfsTer3 
 Familial 
 Maternal 
 Multiplex 
 GEN542R098 
 frameshift_variant 
 c.4110_4111del 
 p.Tyr1371GlnfsTer15 
 De novo 
 NA 
  
 GEN542R099 
 frameshift_variant 
 c.3613del 
 p.Leu1205TrpfsTer192 
 De novo 
 NA 
  
 GEN542R100 
 frameshift_variant 
 c.3780del 
 p.Gln1261SerfsTer136 
 De novo 
 NA 
  
 GEN542R101 
 frameshift_variant 
 c.4419_4431del 
 p.Ser1474ArgfsTer17 
 De novo 
 NA 
  
 GEN542R102 
 stop_gained 
 c.3859C>T 
 p.Gln1287Ter 
 De novo 
 NA 
  
 GEN542R103 
 missense_variant 
 c.4204G>A 
 p.Ala1402Thr 
 Familial 
 Maternal 
 Multi-generational 
 GEN542R104 
 frameshift_variant 
 c.1885del 
 p.His629MetfsTer4 
 De novo 
 NA 
  
 GEN542R105 
 stop_gained 
 c.1591C>T 
 p.Arg531Ter 
 De novo 
 NA 
  
 GEN542R106 
 stop_gained 
 c.267C>G 
 p.Tyr89Ter 
 De novo 
 NA 
  
 GEN542R107 
 missense_variant 
 c.3011T>C 
 p.Leu1004Pro 
 De novo 
 NA 
  
 GEN542R108 
 stop_gained 
 c.2911C>T 
 p.Arg971Ter 
 De novo 
 NA 
  
 GEN542R109 
 missense_variant 
 c.1076G>A 
 p.Arg359His 
 Familial 
 Maternal 
 Multiplex 
 GEN542R110 
 splice_region_variant 
 c.999+8A>G 
  
 Familial 
 Maternal 
  
 GEN542R111 
 copy_number_gain 
  
  
 De novo 
 NA 
  
 GEN542R112 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN542R113 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN542R114 
 missense_variant 
 c.2278G>A 
 p.Gly760Ser 
 De novo 
 NA 
 Simplex 
 GEN542R115 
 missense_variant 
 c.2983C>T 
 p.Arg995Trp 
 De novo 
 NA 
 Simplex 
 GEN542R116 
 frameshift_variant 
 c.854del 
 p.Pro285LeufsTer21 
 De novo 
 NA 
 Simplex 
 GEN542R117 
 frameshift_variant 
 c.854del 
 p.Pro285LeufsTer21 
 Unknown 
  
 Unknown 
 GEN542R118 
 frameshift_variant 
 c.3780del 
 p.Gln1261SerfsTer136 
 De novo 
 NA 
  
 GEN542R119 
 frameshift_variant 
 c.1170dup 
 p.Gln391AlafsTer5 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 24
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

Model Summary

Mice harboring the humanized A350V mutation in the IQSEC2 gene show reduced surface expression of GluA2 AMPA receptors in mouse hippocampal tissue, reduced basal synaptic transmission in the hippocampus, increased locomotion, abnormal social behavior and spatial learning deficits.

References

Type
Title
Author, Year
Primary
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.

M_IQSEC2_1_KI_HM_A350V

Model Type: Genetic
Model Genotype: Homozygous/Hemizygous
Mutation: Mouse Iqsec2 (NM_001005475.2) with an A350V mutation identical to that found in the human where codon GCT (Ala) at amino acid 350 is mutated to GTT (Val) and an additional AGG to CGT silent mutation (R349) to prevent the guide RNA from targeting the same allele after repair.
Allele Type: Humanized LOF mutation
Strain of Origin:
Genetic Background: C57BL/6J
ES Cell Line:
Mutant ES Cell Line:
Model Source: Applied Stem Cells (Milpitas, CA, United States)

M_IQSEC2_1_KI_HM_A350V

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Mutants show increase in velocity of locomotion compared with controls.
Exp Paradigm: NA
 Open field test
 5-7 weeks
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show increase in total distance travelled compared with controls.
Exp Paradigm: NA
 Open field test
 5-7 weeks
General locomotor activity1
Increased
Description: Mutants show increased locomotion during the habituation phase of the three-chambered test compared with controls.
Exp Paradigm: NA
 Three-chamber social approach test
 5-7 weeks
Neuroreceptor levels: glutamate receptors: ampa receptors1
Decreased
Description: Mutants show decrease in surface glua2 protein levels in hippocampal neurons compared with controls. mutants show no change in the amount of total glua2 in hippocampal neurons compared with controls.
Exp Paradigm: NA
 Immunohistochemistry
 6-8 weeks
Neuroreceptor levels: glutamate receptors: ampa receptors1
Decreased
Description: Mutants show a decrease in the number of cells expressing surface ampa receptors, glua1 and glua2, in hippocampal neurons, and a decrease in the amount of glua1/2 expression in the cells expressing them compared with controls. mutants show no change in the total amount of intracellular and extracellular glua1/2 compared with controls in hippocampal neurons.
Exp Paradigm: NA
 Flow cytometric analysis
 6-8 weeks
Neuroreceptor levels: glutamate receptors: ampa receptors1
Decreased
Description: Mutants show no change in the expression of total glua1 and glua2 receptors in the hippocampus and whole brain by western blot compared with controls. mutants show decrease in surface glua2 protein levels in hippocampal neurons compared with controls. mutants show no change in the distribution of the total ampa receptor subunits compared with controls.
Exp Paradigm: Hippocampus, whole brain; crosslinking was done to assay surface receptors
 Western blot
 6-8 weeks
Epsp-spike relationship1
Decreased
Description: Mutants show decreased basal synaptic transmission in the hippocampus compared with controls as indicated by a decrease in the slope of the fepsp slope/fiber volley curve compared with controls.
Exp Paradigm: Hippocampus
 Field potential recordings
 18-20 weeks
Social approach1
Decreased
Description: Mutants show decrease in time spent with a stimulus mouse compared with controls. mutants show no change in increased preference of a social stimulus over a novel object compared with controls.
Exp Paradigm: NA
 Three-chamber social approach test
 5-7 weeks
Spatial reference memory1
Decreased
Description: Female mutants spent less time in the target quadrant during probe trial compared with controls.
Exp Paradigm: NA
 Morris water maze test
 5-7 weeks
Spatial learning1
Decreased
Description: Female mutants show increase in latency to reach the hidden platform on the 1st and 4th days of training compared with controls.
Exp Paradigm: NA
 Morris water maze test
 5-7 weeks
Anxiety1
 No change
 Open field test
 5-7 weeks
Targeted expression1
 No change
 Western blot
 Not reported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 5-7 weeks
Brain morphology1
 No change
 Magnetic resonance imaging (mri)
 Adult
Brain size1
 No change
 Magnetic resonance imaging (mri)
 Adult
Reproductive function1
 No change
 General observations
 Adult
Social memory1
 No change
 Three-chamber social approach test
 5-7 weeks
 Not Reported:

 

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