HELP     Sign In
Search

Relevance to Autism

A mouse model with a loss-of-function mutation in the ARHGAP33 gene exhibited altered social behavior and dendritic spine and synapse development (Schuster et al., 2015).

Molecular Function

This gene encodes a member of the sorting nexin family. Members of this family are involved in intracellular trafficking.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD, epilepsy/seizures
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN713R001a 
 missense_variant 
 c.1495G>A 
 p.Val499Met 
 Familial 
 Both parents 
 Multiplex 
 GEN713R002 
 frameshift_variant 
 c.3166_3167del 
 p.His1056Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN713R003 
 splice_site_variant 
 c.93+1dup 
  
 De novo 
  
  
 GEN713R004 
 missense_variant 
 c.1084C>T 
 p.Arg362Trp 
 De novo 
  
  
 GEN713R005 
 synonymous_variant 
 c.1779G>C 
 p.Thr593%3D 
 De novo 
  
  
 GEN713R006 
 missense_variant 
 c.2207G>A 
 p.Arg736Gln 
 De novo 
  
  
 GEN713R007 
 missense_variant 
 c.2207G>A 
 p.Arg736Gln 
 De novo 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion
 13
 

Model Summary

Arhgap33 knock out mice have normal sensory function, including vision and olfaction. They show reduced social behavior and increased dendritic spine density in the neocortex.

References

Type
Title
Author, Year
Primary
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exons 7 - 12 were replaced with a lacZ gene with a nuclear localization signal and a self-excising neo cassette via homologous recombination in embryonic stem cells.
Allele Type: Targeted(Knockout)
Strain of Origin:
Genetic Background: C57Bl/6
ES Cell Line:
Mutant ES Cell Line:
Model Source:
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Clasping reflex1
Increased
 Tail suspension test
 Adult
Spontaneous post synaptic events: excitatory currents1
Decreased
 Whole-cell patch clamp
 Adult
Nest building behavior1
Increased
 Nest building assay
 Adult
Social memory1
Decreased
 Three-chamber social approach test
 Adult
Social approach1
Decreased
 Partition test
 Adult
Social approach1
Decreased
 Three-chamber social approach test
 Adult
Anxiety1
Increased
 Open field test
 Adult
Anxiety1
Increased
 Defensive burying test
 Adult
Anxiety1
Increased
 Marble-burying test
 Adult
Locomotor activity in diurnal cycle1
 No change
 Home cage behavior
 Adult
Coat color1
 No change
 NA
 NA
Skeletal development1
 No change
 NA
 NA
Exploratory activity1
 No change
 Open field test
 Adult
Clasping reflex1
 No change
 Tail suspension test
 NA
Gait1
 No change
 NA
 Adult
General locomotor activity1
 No change
 NA
 Adult
Grip strength1
 No change
 Grip strength test
 Adult
Motor strength and endurance1
 No change
 NA
 NA
Righting response1
 No change
 NA
 Adult
Self grooming: home cage/familiar environment1
 No change
 NA
 NA
Spontaneous and reflexive eye movements1
 No change
 Corneal reflex test
 NA
Tremor1
 No change
 NA
 Adult
Walking backwards1
 No change
 NA
 Adult
Spontaneous post synaptic event amplitude: excitatory currents1
 No change
 Whole-cell patch clamp
 Adult
Respiratory function1
 No change
 NA
 Adult
Stereotypy1
 No change
 NA
 Adult
Olfaction1
 No change
 Buried food test
 Adult
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 Adult
Vision1
 No change
 Cliff avoidance test
 Adult
Social approach1
 No change
 Partition test
 Adult
 Not Reported: Communications, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Dlg2 discs, large homolog 2 (Drosophila) 23859 Q91XM9 IP/WB
Schuster S , et al. 2015
Dlg3 discs, large homolog 3 (Drosophila) 53310 P70175 IP/WB
Schuster S , et al. 2015
Dlg4 Postsynaptic density protein 95 13385 Q62108 IP/WB; Co-localization
Schuster S , et al. 2015
NTRK2 neurotrophic receptor tyrosine kinase 2 4915 Q16620 IP/WB; Co-localization
Nakazawa T , et al. 2016
SORT1 sortilin 1 6272 Q99523 IP/WB; Co-localization
Nakazawa T , et al. 2016

SORT1
HELP
Copyright © 2017 MindSpec, Inc.