Mouse Genome Informatics
hm
    Shank2tm1Mgle/Shank2tm1Mgle
B6.129S4-Shank2tm1Mgle
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• in males and females in an elevated plus maze
• in males in a novel object recognition arena (J:186718)
• impaired spatial memory in a Morris water maze
• impaired spatial learning in a Morris water maze
• 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 (J:186718)
• males housed alone show impaired nesting behavior (J:186718)
• 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 (J:186718)

nervous system
N
• grossly normal brain structures (J:186718)
• excitatory and inhibitory synapses are similar to wild-type controls (J:186718)
• decrease in the NMDA/AMPA ratio
• long term potentiation induced by high frequency stimulation or theta burst stimulation is severely impaired
• long term depression induced by low frequency stimulation is completely abolished

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