Phenotypes Associated with This Genotype

Genotype
MGI:4949761

• Allelic Composition: Shank3^tm2Gfng/Shank3^tm2Gfng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:171113 )

N • mice exhibit normal learning and memory in a Morris water maze

increased anxiety-related response ( J:171113 )

• mice exhibit less time exploring the open arms of an elevated plus maze compared with wild-type mice

• mice exhibit increased latency to crossing a bright area in a light-dark emergence test compared with wild-type mice

• however, mice exhibit normal thigmotaxis in an open field and time spent on either side of the box in the light-dark emergence test

increased grooming behavior ( J:171113 )

• resulting in skin lesions

decreased vertical activity ( J:171113 )

social withdrawal ( J:171113 )

• mice prefer to interact with an empty cage rather than a social partner unlike wild-type mice

• mice spend less time interacting with a social partner than wild-type mice

• mice fail to spend more time with a novel social partner unlike wild-type mice

• social withdrawal is not alleviated by cross fostering pups with wild-type dams

environmentally induced seizures ( J:171113 )

• mice occasionally exhibit handling-induced seizures unlike wild-type mice

• however, no spontaneous seizures are observed

nervous system

environmentally induced seizures ( J:171113 )

• mice occasionally exhibit handling-induced seizures unlike wild-type mice

• however, no spontaneous seizures are observed

abnormal striatum morphology ( J:171113 )

• mice exhibit striatal hypertrophy compared with wild-type mice

abnormal medium spiny neuron morphology ( J:171113 )

• medium spiny neurons exhibit neuronal hypertrophy with increased complexity of dendritic arborization, total dendritic length, and surface area compared to in wild-type mice

• spine density is reduced compared to in wild-type mice

• the neck width of medium spiny neuron spines is slightly larger than in wild-type mice

abnormal postsynaptic density morphology ( J:171113 )

• mice exhibit abnormal post-synaptic density composition compared to in wild-type mice

abnormal miniature excitatory postsynaptic currents ( J:171113 )

• reduced frequency and peak amplitude in medium spiny neurons

• however, miniature excitatory postsynaptic current frequency and amplitude in the hippocampal CA1 sub-region are normal

integument

skin lesions ( J:171113 )

• at 3 to 6 months of age, mice exhibit pronounced skin lesions with varying degrees of penetrance due to excessive self-grooming unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:171113