Phenotypes Associated with This Genotype

Genotype
MGI:5570964

• Allelic Composition: Tg(Shank3-EGFP)1Hzo/0
• Genetic Background: involves: FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

polyphagia ( J:201867 )

abnormal emotion/affect behavior ( J:201867 )

• duration of immobility is less than in wild-type mice in a tail-suspension test

abnormal habituation to a new environment ( J:201867 )

• mice do not habituate during the open field test

increased startle reflex ( J:201867 )

• elevation in acoustic startle response

• valproate treatment reverses the abnormal startle response

hyperactivity ( J:201867 )

• 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

increased locomotor activity ( J:201867 )

• increase in locomotor activity and speed in the open field test

abnormal circadian behavior ( J:201867 )

• 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

prolonged circadian behavior period ( J:201867 )

abnormal social/conspecific interaction behavior ( J:201867 )

• 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

decreased vocalization ( J:201867 )

• mice make fewer calls during an ultrasonic vocalization test at P13

seizures ( J:201867 )

• 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

increased body weight ( J:201867 )

• at 9 and 15 weeks of age

nervous system

seizures ( J:201867 )

• 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

abnormal hippocampus pyramidal cell morphology ( J:201867 )

• hippocampal pyramidal neurons exhibit reduced number of inhibitory synapses

abnormal dendritic spine morphology ( J:201867 )

• density of dendritic spines is increased

abnormal synapse morphology ( J:201867 )

• hippocampal pyramidal neurons exhibit reduced number of inhibitory synapses

increased excitatory postsynaptic current amplitude ( J:201867 )

• 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

decreased miniature inhibitory postsynaptic current frequency ( J:201867 )

• 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

decreased prepulse inhibition ( J:201867 )

• 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