Phenotypes Associated with This Genotype

Genotype
MGI:5086221

• Allelic Composition: Shank3^tm1.1Pfw/Shank3⁺
• Genetic Background: B6.129S6-Shank3^tm1.1Pfw

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

behavior/neurological

behavior/neurological phenotype ( J:198768 )

N • mice exhibit normal short-term spatial recognition, spatial working memory, context and cue-related fear memory and extinction, anxiety levels, and learning of motor skills

decreased startle reflex ( J:198768 )

• mice exhibit lower amplitudes and longer latencies of startle response compared with wild-type mice

induced hyperactivity ( J:198768 )

• in dizocilpine- or amphetamine-treated mice

• however, mice do not exhibit novelty-induced hyperactivity

abnormal social/conspecific interaction behavior ( J:198768 )

• mice exhibit reduced social investigation modulated by episodes of aggression compared with wild-type mice

increased aggression towards mice ( J:198768 )

• mice exhibit increased aggression towards a novel stimulus mouse and in a resident-intruder tests compared with wild-type mice

abnormal social investigation ( J:198768 )

• mice exhibit reduced social investigation modulated by episodes of aggression compared with wild-type mice

• male mice spend more time investigating an enclosed male stimulus compared with wild-type mice

• male mice exhibit increased latency to approach a sexually receptive enclosed female mouse compared with wild-type mice

• however, mice exhibit normal social recognition memory

abnormal vocalization ( J:198768 )

♂ • male mice exhibit latency to first ultrasound call in the presence of a female mice compared with wild-type mice

nervous system

abnormal glutamate-mediated receptor currents ( J:198768 )

• the ratio of NMDA to AMPA-dependent response in the cortex is reduced compared to in wild-type mice

• however, AMPAR-mediated miniature excitatory postsynaptic current amplitude and frequency are normal

reduced NMDA-mediated synaptic currents ( J:198768 )

reduced long-term potentiation ( J:198768 )

• NMDAR-dependent long term potentiation induction magnitude is reduced and decays more rapidly than in wild-type mice

abnormal long-term depression ( J:198768 )

• glutamate receptor long term depression (mGluR-LTD) induced by DHPG is increased and inhibited by cycloheximide compared to in wild-type mice

• LTD induced by paired-pulse low-frequency stimulation is increased compared to in wild-type mice

decreased synaptic depression ( J:198768 )

• NMDAR-dependent long term depression of Schaffer collateral-CA1 synapses is reduced compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:198768