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Relevance to Autism

SLC30A3-deficient male mice were found to exhibit autistic behaviors, increased cortical volume and neurite density, and elevated BNDF levels and MMP-9 activity; treatment with the MMP inhibitor minocycline attenuated BDNF levels, megalencephaly and autistic behaviors (Yoo et al., 2016). SLC30A3-null mice had previously been shown to display increased sensitivity to hyperthermia-induced seizures that model febrile seizures (Hildebrand et al., 2015).

Molecular Function

This gene encodes a synaptic zinc transporter that is involved in the accumulation of zinc in synaptic vesicles.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism phenotypes in ZnT3 null mice: Involvement of zinc dyshomeostasis, MMP-9 activation and BDNF upregulation.
Support
Loss of synaptic Zn2 transporter function increases risk of febrile seizures.
Support
Trans-synaptic association of vesicular zinc transporter 3 and Shank3 supports synapse-specific dendritic spine structure and function in mouse auditory cortex
No Rare Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Deletion
 13
 
2
Duplication
 1
 
2
Duplication
 1
 

Model Summary

Absence of Slc30a3 in mice results in autism-like symptoms including deficits in social interaction and increase in repetitive behaviors.

References

Type
Title
Author, Year
Primary
Autism phenotypes in ZnT3 null mice: Involvement of zinc dyshomeostasis, MMP-9 activation and BDNF upregulation.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Slc30a3 KO ( null) mice with deletion of exons 1-4
Allele Type: Knockout
Strain of Origin: 129Sv/Ev
Genetic Background: C57Bl/129Sv
ES Cell Line: Unreported
Mutant ES Cell Line: AB1 cells
Model Source: Richard D. Palmiter, University of Washington (PMID 21245308)
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
 Open field test
 4-5 weeks
Neuroreceptor levels: trkb1
Increased
 Immunohistochemistry
 5 weeks
Dendritic architecture: spine density1
Increased
 Immunohistochemistry
 5 weeks
Neuroreceptor levels: trkb1
Increased
 Western blot
 5 weeks
Brain size1
Increased
 Macroscopic analysis
 2.1, 5 weeks
Neuronal number1
Increased
 Immunohistochemistry
 5 weeks
Neocortex morphology: size1
Increased
 Magnetic resonance imaging (mri)
 5 weeks
Neurotransmitter release: neurotrophins1
Increased
 Immunohistochemistry
 5 weeks
Repetitive digging1
Increased
 Marble-burying test
 4-5 weeks
Social memory1
Decreased
 Three-chamber social approach test
 4.5 weeks
Social interaction1
Decreased
 Reciprocal social interaction test
 4-5 weeks
Social approach1
Decreased
 Three-chamber social approach test
 4.5 weeks
Self grooming: social context1
Increased
 Three-chamber social approach test
 4-5 weeks
Bioactive compound levels1
Increased
 Immunohistochemistry
 4-5 weeks
Anxiety1
Increased
 Open field test
 4-5 weeks
Protein expression level evidence1
Increased
 Immunohistochemistry
 4-5 weeks
Protein expression level evidence1
Increased
 Western blot
 4-5 weeks
Micronutrient level: mineral: zinc1
Increased
 Immunohistochemistry
 4-5 weeks
Gene expression1
Increased
 Quantitative pcr (qrt-pcr)
 4-5 weeks
Anxiety1
 No change
 Open field test
 4-5 weeks
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 4-5 weeks
Protein expression level evidence1
 No change
 Western blot
 4-5 weeks
Protein expression level evidence1
 No change
 Immunohistochemistry
 4-5 weeks
General locomotor activity1
 No change
 Open field test
 4-5 weeks
Grip strength1
 No change
 General observations
 4-5 weeks
Brain size1
 No change
 Macroscopic analysis
 P8
Neocortex morphology: size1
 No change
 Magnetic resonance imaging (mri)
 5 weeks
Repetitive digging1
 No change
 Marble-burying test
 4-5 weeks
Social approach1
 No change
 Three-chamber social approach test
 4.5 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 4-5 weeks
Social memory1
 No change
 Three-chamber social approach test
 4.5 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Learning & memory, Maternal behavior, Physiological parameters, Seizure, Sensory

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