Mouse Genome Informatics
hm1
    Shank3tm1.1Pfw/Shank3tm1.1Pfw
B6.129S6-Shank3tm1.1Pfw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• do not show communication deficits or abnormalities in startle response (J:204162)
• remarkable increase in avoidance of a brightly lit chamber in a dark/light chamber assay spending almost the entire 10 min assay time in the dark chamber
• however, mice do not show increased anxiety-like behaviors in elevated plus maze or open field assays, suggesting this is an avoidance of light rather than an anxiety-like behavior
• remarkable increase in avoidance of a brightly lit chamber in a dark/light chamber assay spending almost the entire 10 min assay time in the dark chamber
• however, mice do not show increased anxiety-like behaviors in elevated plus maze or open field assays, suggesting this is an avoidance of light rather than an anxiety-like behavior
• show no preference for social novelty versus familiarity
• decrease locomotor behavior for the first 5 min in a novel home cage, this rapidly reverts to wild-type levels after the first 5 min
• fail to interact with inanimate objects in nest building and marble burying assays
• interact significantly less with an inanimate object in a three-chamber social interaction assay
• increase in grooming and time spent per grooming bout in older (10-13 months of age) but not younger (9-18 weeks of age) mice
• in a Morris water maze
• in a reversal learning water maze test mice fail to show any preference for the new target location in the probe trial
• in a reversal learning water maze test mice fail to show any preference for the new target location in the probe trial
• increased swim speed in females (J:204162)
• decrease in latency to fall in a rotarod assay
• decreased latency in a hotplate assay
• show no preference for social novelty versus familiarity

nervous system
N
• the number and structure of CA1 pyramidal neuron synaptic spines are similar to controls (J:204162)
• the input/output relationship of stimulus intensity to slope of the fEPSP is decreased
• decrease in the NMDA/AMPA ratio in hippocampal synapses
• significantly impaired
• frequency is significantly decreased; however, amplitude is similar to controls

growth/size/body
• at about 17 weeks of age

integument
• decreased latency in a hotplate assay


Mouse Genome Informatics
ht2
    Shank3tm1.1Pfw/Shank3+
B6.129S6-Shank3tm1.1Pfw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
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 (J:198768)
• mice exhibit lower amplitudes and longer latencies of startle response compared with wild-type mice
• in dizocilpine- or amphetamine-treated mice
• however, mice do not exhibit novelty-induced hyperactivity
• mice exhibit reduced social investigation modulated by episodes of aggression compared with wild-type mice
• mice exhibit increased aggression towards a novel stimulus mouse and in a resident-intruder tests compared with wild-type mice
• 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
• male mice exhibit latency to first ultrasound call in the presence of a female mice compared with wild-type mice

nervous system
• 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
• NMDAR-dependent long term potentiation induction magnitude is reduced and decays more rapidly than in wild-type mice
• 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
• NMDAR-dependent long term depression of Schaffer collateral-CA1 synapses is reduced compared to in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:198768