Mouse Genome Informatics
hm
    Shank3tm2Gfng/Shank3tm2Gfng
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
N
• mice exhibit normal learning and memory in a Morris water maze (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
• resulting in skin lesions
• 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
• mice occasionally exhibit handling-induced seizures unlike wild-type mice
• however, no spontaneous seizures are observed

nervous system
• mice occasionally exhibit handling-induced seizures unlike wild-type mice
• however, no spontaneous seizures are observed
• mice exhibit striatal hypertrophy compared with wild-type mice
• 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
• mice exhibit abnormal post-synaptic density composition compared to in wild-type mice
• 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
• 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
OMIM IDRef(s)
Autism 209850 J:171113