Phenotypes Associated with This Genotype

Genotype
MGI:5776377

• Allelic Composition: Shank3^tm3.1Gfng/Shank3^tm3.1Gfng
• 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 as observed in rotarod test

decreased exploration in new environment ( J:230887 )

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

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 )

• 28% of mice develop lesions from grooming between 4 and 6 months

• mice spend twice as much time grooming as controls

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/conspecific interaction behavior ( J:230887 )

• reduced number of interactive events in juvenile social play at P23

• nose-to-anogenital sniffing and following behavior are reduced as compared to controls

increased aggression towards mice ( J:230887 )

• increased social dominance behavior as determined by tube test

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 )

• reduced field population spike amplitude in dorsolateral striatum at P14 and adult as compared to controls

• presynaptic function is not affected

reduced NMDA-mediated synaptic currents ( J:230887 )

• reduced NMDA receptor-mediated currents as compared to controls

abnormal miniature excitatory postsynaptic currents ( J:230887 )

• increase in mEPSC amplitude in P14 dorsolateral striatal medium spiny neurons, but not frequency, as compared to controls

• no difference in mEPSC frequency or amplitude is found in prefrontal cortex of P14 mice

• 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

abnormal paired-pulse inhibition ( J:230887 )

• reduced paired pulse inhibition (PPI)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:230887