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Relevance to Autism

Deletion of SYN3 was found to alter social behavior in male mice (Greco et al., 2013).

Molecular Function

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism-related behavioral abnormalities in synapsin knockout mice.
ASD
Support
Lessons learned from additional research analyses of unsolved clinical exome cases.
DD, epilepsy/seizures, hypotonia
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN564R001 
 missense_variant 
 c.1444_1445delinsTT 
 p.Pro481Leu 
 De novo 
  
 Simplex 
 GEN564R002 
 stop_gained 
 G>A 
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 22
 

Model Summary

Syn knockout mice as a useful experimental model of ASD and epilepsy.

References

Type
Title
Author, Year
Primary
Autism-related behavioral abnormalities in synapsin knockout mice.
Additional
The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.

M_SYN3_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: 2.0 kb XhoISstI fragment containing exon 1 was replaced by a neomycin resistance gene in reverse orientation.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: RW4
Mutant ES Cell Line: Not Specified
Model Source: Greengard laboratory (PMID 12040043)

M_SYN3_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene trap mediated deletion of exon 1 of Syn3 gene.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: RW4
Mutant ES Cell Line: Not Specified
Model Source: Greengard laboratory (PMID 12040043)

M_SYN3_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Self grooming: perseveration1
Increased
Description: Increased self grooming behavior
Exp Paradigm: Time spent in grooming behavior
 Grooming behavior assessments
 2, 6 months
Social interaction1
Decreased
Description: Decreased social novelty indicated by failure to discirminate between familiar vs. novel mouse
Exp Paradigm: Social novelty phase of three-chambered social approach test
 Three-chamber social approach test
 2 months
Social interaction1
Decreased
Description: Decreased social interaction demonstrated by virtually absent significant food preference
Exp Paradigm: Social transmission of food preference task
 Social transmission of food preference
 2, 6 months
Social dominance1
Decreased
Description: Decreased social dominance as indicated by lower percentage of matches won
Exp Paradigm: Social dominance tube test
 Tube test of social dominance
 2, 6 months
Aggression1
Decreased
Description: Decreased aggression indicated by reduced social interaction with intruder after 1-2 months of social isolation
Exp Paradigm: Resident intruder test
 Resident-intruder test
 6 months
Ultrasonic vocalization: Interaction induced: opposite sex stimulus2
 No Change
 Monitoring ultrasonic vocalizations: reciprocal interaction
 Adult
Ultrasonic vocalization: Isolation induced2
 No Change
 Monitoring ultrasonic vocalizations
 P4, P6, P8, P12
Anxiety1
 No Change
 Light-dark exploration test: Light-dark exploration test
 2, 6 months
General locomotor activity1
 No Change
 Open field test
 2, 6 months
Brain morphology2
 No Change
 Voxel based morphometry
 3- dimensional volumetric assessment of cortical and subcortical structures.
Brain size2
 No Change
 Voxel based morphometry
 
Repetitive digging1
 No Change
 Marble-burying test
 2, 6 months
Olfaction1
 No Change
 Buried food test
 2, 6 months
Social interaction1
 No Change
 Three-chamber social approach test
 2, 6 months
Social interaction: opposite sex2
 No Change
 Reciprocal social interaction test
 Adult
Social memory1
 No Change
 Social recognition test
 2, 6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory

M_SYN3_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Ultrasonic vocalization: Interaction induced: opposite sex stimulus1
 No Change
 Monitoring ultrasonic vocalizations: reciprocal interaction
 Adult
Ultrasonic vocalization: Isolation induced1
 No Change
 Monitoring ultrasonic vocalizations
 P4, P6, P8, P12
Brain morphology1
 No Change
 Voxel based morphometry
 3- dimensional volumetric assessment of cortical and subcortical structures.
Brain size1
 No Change
 Voxel based morphometry
 
Social interaction: opposite sex1
 No Change
 Reciprocal social interaction test
 Adult
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Snca synuclein, alpha (non A4 component of amyloid precursor) 6622 P37840 Proximity ligation assay; IP/WB
Zaltieri M , et al. 2015
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 192363 O54960 GST
Jaffrey SR , et al. 2002

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