Phenotypes Associated with This Genotype

Genotype
MGI:5776380

• Allelic Composition: Shank3^tm4.1Gfng/Shank3^tm4.1Gfng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

abnormal motor learning ( J:230887 )

• impaired motor learning in rotarod test

decreased exploration in new environment ( J:230887 )

• decreased total distance travelled in open field test as compared to controls

increased aggression towards mice ( J:230887 )

• increased social dominance behavior as determined by tube test

increased anxiety-related response ( J:230887 )

• mice spend less time exploring center of open area test than controls

• mice spend less time in open arm during elevated zero maze test

increased grooming behavior ( J:230887 )

• 8.7% of mice develop lesions from grooming between 4 and 6 months

• amount of time grooming is not significantly different than controls although a trend of increase is observed

abnormal startle reflex ( J:230887 )

• impaired acoustic startle response

impaired coordination ( J:230887 )

• impaired motor coordination in rotarod test

decreased locomotor activity ( J:230887 )

abnormal social investigation ( J:230887 )

• mice exhibit no preference for a stranger mouse or novel object in a test of voluntary social interaction

nervous system

abnormal dendritic spine morphology ( J:230887 )

• reduction in spine density of layer 2/3 pyramidal neurons in prefrontal cortex

decreased excitatory postsynaptic current amplitude ( J:230887 )

• presynaptic function is not affected

• reduced striatal field pop spike amplitude in adults as compared to controls

reduced NMDA-mediated synaptic currents ( J:230887 )

• reduced NMDA receptor-mediated currents as compared to controls

abnormal miniature excitatory postsynaptic currents ( J:230887 )

• reduced mEPSC frequency in medium spiny neurons from adult mice as compared to controls

• small, but significant, reduction of mEPSC amplitude in medium spiny neurons from adult mice as compared to controls

• reduced mEPSC frequency in pyramidal neurons of prefrontal cortex in adult mice as compared to controls

• reduced mEPSC amplitude in prefrontal cortex in adult mice

• mEPSC frequency is increased in the prefrontal cortex at P14

abnormal paired-pulse inhibition ( J:230887 )

• slightly impaired pulse inhibition (PPI)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
schizophrenia		DOID:5419	OMIM:181500	J:230887