Phenotypes Associated with This Genotype

Genotype
MGI:6438117

• Allelic Composition: Shank3^tm3.2Cmpl/Shank3⁺
• Genetic Background: B6.129S6(Cg)-Shank3^tm3.2Cmpl

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

behavior/neurological

abnormal object recognition memory ( J:289884 )

• in the novel object recognition test, mice show no preference for novel object B over control object C compared to wild-type mice which show a preference for the new object B

impaired spatial learning ( J:289884 )

• during a spatial test, mice show no preference for object A in the new location compared to wild-type mice which show a preference for object A

increased grooming behavior ( J:289884 )

• mice spend more time grooming in a novel home-cage than wild-type mice; this is due increased time grooming per bout and not due to increased number of grooming bouts

excessive vocalization ( J:289884 )

• pups temporarily isolated from their mothers emit more ultrasonic vocalization calls than wild-type mice at P4 and P12

nervous system

abnormal synaptic transmission ( J:289884 )

• NMDA/AMPA ratio is decreased at glutamatergic synapses onto medium spiny neurons indicating that striatal excitatory transmission is impaired

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:289884
Phelan-McDermid syndrome		DOID:0080354	OMIM:606232	J:289884