About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5437480
Allelic
Composition
Shank2tm1Mgle/Shank2tm1Mgle
Genetic
Background
B6.129S4-Shank2tm1Mgle
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shank2tm1Mgle mutation (0 available); any Shank2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired spatial memory in a Morris water maze
• impaired spatial learning in a Morris water maze
• in males and females in an elevated plus maze (J:186718)
• mice show increased anxiety-like behavior in the elevated plus maze (J:237188)
• however, mice show normal behavior in the light-dark test of anxiety and mice do not show abnormalities in the hole-board test of repetitive behavior (J:237188)
• in males in a novel object recognition arena
• mice show increased number of missteps, fewer normal steps, and frequent back steps and jumps compared to wild-type mice in the Erasmus ladder test
• when housed alone, males show enhanced jumping mostly mixed with upright scrabbling, normal grooming, and decreased digging behaviors
• females show similar repetitive jumping compared to male mice
• in males and females in an open field test
• females display less efficient pup retrieval
• males housed alone show impaired nesting behavior
• reduced interaction with target wild-type mice in a home cage assay
• in a 3 chamber assay preference for a novel mouse over a novel object is not as strong as in wild-type mice
• however, preference for a novel mouse over a familiar mouse is similar to wild-type
• treatment with 3-cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide (CDPPB) substantially improves social interaction but not other behaviors
• males allowed to interact with a wild-type female vocalize less frequently and take longer to make the first call compared to wild-type males

nervous system
N
• grossly normal brain structures
• excitatory and inhibitory synapses are similar to wild-type controls
• molecular layer shows an approximate 40% reduction in the density of excitatory synapses, mainly parallel fibers-Purkinje cell synapses as shown by the reduced number of postsynaptic density apposed to presynaptic axon terminals
• approximate 40% reduction in the density of excitatory synapses in the molecular layer, mainly parallel fibers-Purkinje cell synapses as shown by the reduced number of postsynaptic density apposed to presynaptic axon terminals
• brain slices show increases in the number of mismatched excitatory synapses, in which the postsynaptic density is misaligned with the presynaptic nerve terminal and free spines that are not in close contact with the presynaptic nerve terminal
• reduction in levels of excitatory synaptic proteins in the cerebellum at P19-P22
• decrease in the NMDA/AMPA ratio
• long term potentiation induced by high frequency stimulation or theta burst stimulation is severely impaired
• Purkinje cells show approximate 40% reduced frequency of miniature excitatory postsynaptic currents (mEPSCs) at P19-P23
• however, mice show normal LTD at parallel fibers-Purkinje cell synapses in the cerebellum
• long term depression induced by low frequency stimulation is completely abolished

Mouse Models of Human Disease
OMIM ID Ref(s)
Autism, Susceptibility to, 17; AUTS17 613436 J:186718 , J:237188


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/21/2017
MGI 6.07
The Jackson Laboratory