Phenotypes Associated with This Genotype

Genotype
MGI:5883282

• Allelic Composition: Shank3^tm1Cmpl/Shank3^tm1Cmpl
• Genetic Background: B6J.129S6-Shank3^tm1Cmpl

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

behavior/neurological

abnormal motor learning ( J:224381 )

• mice exhibit impaired motor learning on the accelerating rotarod, showing shorter latencies to fall from the rotard and showing little to no improvement in motor learning

• however, mice do not exhibit anxiety-like phenotypes in the open field, elevated plus maze, or dark/light task, do not show social interaction deficits and do not exhibit excessive grooming

decreased exploration in new environment ( J:224381 )

• mice exhibit decreased locomotor activity in response to novel environments

• in the first 5 min of a novel home cage, mice show a decrease in locomotor activity that reverts to wild-type level rapidly thereafter

• distance traveled in the open field over 10 min is decreased

• distance traveled in the elevated plus maze over 5 min is decreased

• total number of photobeams interrupted during the 10 min in the dark/light chamber is decreased

• although mice do show a strong increase in latency to enter the brightly lit side of the dark/light box, there is no difference in the total time spent in either dark or light side of the chamber indicating that mice show an avoidance of the novel, brightly lit chamber initially

impaired spatial learning ( J:224381 )

• mice are slower the learn the water maze but show use of spatial strategy during subsequent recall

• however, mice have a higher swim speed during training in the Morris water maze than controls

abnormal response to novel object ( J:224381 )

• mice exhibit avoidance behavior toward inanimate objects; in the marble burying task, mice show little or no interest in burying marbles and often leave them undisturbed and in the nest building task, when a nestlet was added to a novel cage following habituation, mice show very little change in their nestlets

impaired coordination ( J:224381 )

• mice exhibit impaired motor coordination on the accelerating rotarod, showing shorter latencies to fall from the rotarod

growth/size/body

decreased body weight ( J:224381 )

nervous system

impaired synaptic plasticity ( J:224381 )

• hippocampal synaptic plasticity is impaired

abnormal CNS synaptic transmission ( J:224381 )

• basal hippocampal synaptic transmission, in the absence of synaptic plasticity, is impaired

• however, no changes are seen in presynaptic function or short-term plasticity

abnormal excitatory postsynaptic potential ( J:224381 )

• decrease in fEPSP slope

abnormal miniature excitatory postsynaptic currents ( J:224381 )

• mean frequency of mEPSCs onto CA1 neurons in the presence of TTX is decreased and is reflected in the rightward shift in the distribution of interevent frequency indicating longer periods between mEPSCs

decreased post-tetanic potentiation ( J:224381 )

• mice show a decrease in the magnitude of post-tetanic potentiation in the first 5 min following the conditioning stimulus in the hippocampus

• however, LTP is not affected

abnormal long-term depression ( J:224381 )

• mice exhibit a decrease in the magnitude of mGluR-long term depression at 55-60 min after DHPG application

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:224381