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Phenotypes Associated with This Genotype
Genotype
MGI:5570964
Allelic
Composition
Tg(Shank3-EGFP)1Hzo/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Shank3-EGFP)1Hzo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• abnormal circadian rhythms, with some mice showing complete loss of rhythm when placed into constant darkness
• mice show increased period length and activity count, but normal alpha
• duration of immobility is less than in wild-type mice in a tail-suspension test
• mice do not habituate during the open field test
• elevation in acoustic startle response
• valproate treatment reverses the abnormal startle response
• increase in locomotor activity and speed in the open field test
• females exhibit increased home-cage activity
• an acute injection of amphetamine aggravates the hyperactivity to a greater degree than in wild-type mice
• lithium treatment does not mitigate any of the manic-like behaviors of mice
• valproate treatment reverses the hyperactivity
• however, mice do not exhibit repetitive behavior
• decrease in social interaction, with mice spending less time in close interaction with novel social partners
• mice do not show a preference for novel mice to novel objects
• mice make fewer calls during an ultrasonic vocalization test at P13
• spontaneous seizures
• EEG shows hyperexcitability discharges accompanied by electrographic seizures
• seizures result from a synaptic excitatory/inhibitory inbalance that is shifted towards excitation
• valproate treatment decreases the frequency of epileptiform spikes

growth/size/body
• at 9 and 15 weeks of age

nervous system
• spontaneous seizures
• EEG shows hyperexcitability discharges accompanied by electrographic seizures
• seizures result from a synaptic excitatory/inhibitory inbalance that is shifted towards excitation
• valproate treatment decreases the frequency of epileptiform spikes
• hippocampal pyramidal neurons exhibit reduced number of inhibitory synapses
• density of dendritic spines is increased
• hippocampal pyramidal neurons exhibit reduced number of inhibitory synapses
• amplitude of spontaneous excitatory postsynaptic current (EPSC is) increased in CA1 hippocampal pyramidal neurons
• however, AMPA receptor-mediated miniature EPSC is normal and basal synaptic transmission at Schaffer collateral-CA1 synapses is normal
• CA1 hippocampal pyramidal neurons show a reduction in GABA(A) receptor-mediated miniature inhibitory postsynaptic current (mIPSC) frequency, but not in amplitude or decay time
• reduction in prepulse inhibition
• valproate treatment reverses the impaired prepulse inhibition

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosome 22q13 duplication syndrome DOID:0060437 OMIM:615538
J:201867


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory