Phenotypes Associated with This Genotype

Genotype
MGI:5435702

• Allelic Composition: Shank2^tm1.1Tmb/Shank2^tm1.1Tmb
• Genetic Background: B6.129-Shank2^tm1.1Tmb

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:186719 )

behavior/neurological

increased anxiety-related response ( J:186719 )

• during the light-dark box test

abnormal response to novelty ( J:186719 )

• in a 3 chamber test display reduced conspecific recognition or interest in social novelty compared to controls

increased grooming behavior ( J:186719 )

♀ • self-grooming time is increased in females

abnormal motor capabilities/coordination/movement ( J:186719 )

• shorter digging bouts

impaired righting response ( J:186719 )

♀ • in females at P8 compared to heterozygotes

improved righting response ( J:186719 )

♂ • in males at P4 and P10

limb grasping ( J:186719 )

• increase in the proportion of mice showing limb grasping at 4 months of age compared to wild-type controls

increased locomotor activity ( J:186719 )

• in an open field assay

increased stereotypic behavior ( J:186719 )

abnormal sexual interaction ( J:186719 )

♂ • latency to first contact is increased during interactions of a mutant male with an estrus C57BL/6 female but duration of contact is similar to controls

♂ • latency to first vocalization is significantly longer and more short and unstructured calls are emitted during interactions of a mutant male with an estrus C57BL/6 female compared to wild-type pairings

abnormal social investigation ( J:186719 )

• latency to first contact is similar to controls but time spent investigating mice of the same sex is reduced in both males and females

abnormal vocalization ( J:186719 )

♀ • female but not male pups (P4 and P10) call more frequently when isolated compared to age and sex matched controls

♀ • in female - female interactions there is a longer latency to emit the first vocalization and fewer vocalizations in interactions involving one mutant female compared to interactions between wild-type mice

♀ • females utter more short and unstructured calls and fewer mixed calls in mutant-wild-type pairs compared to pairs involving only wild-type mice

nervous system

abnormal dendritic spine morphology ( J:186719 )

• slight decrease in dendritic spine numbers in the hippocampus

abnormal excitatory postsynaptic potential ( J:186719 )

• field excitatory postsynaptic potentials are decreased by about 40% in CA1 pyramidal cells in acute hippocampal slices from mice at age P21-P28 and 3 months

enhanced long-term potentiation ( J:186719 )

• long-term potentiation induced by high-frequency stimulation of the Schaffer collaterals is slightly enhanced

abnormal miniature excitatory postsynaptic currents ( J:186719 )

• decrease in frequency in CA1 pyramidal cells but no difference in amplitude

growth/size/body

decreased body weight ( J:186719 )

• in females at 6, 8, and 10 days of age

• in juvenile (20-22 days of age) and adult (4 months of age) males and females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:186719