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Phenotypes Associated with This Genotype
Genotype
MGI:5776380
Allelic
Composition
Shank3tm4.1Gfng/Shank3tm4.1Gfng
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shank3tm4.1Gfng mutation (1 available); any Shank3 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired motor learning in rotarod test
• decreased total distance travelled in open field test as compared to controls
• increased social dominance behavior as determined by tube test
• mice spend less time exploring center of open area test than controls
• mice spend less time in open arm during elevated zero maze test
• 8.7% of mice develop lesions from grooming between 4 and 6 months
• amount of time grooming is not significantly different than controls although a trend of increase is observed
• impaired acoustic startle response
• impaired motor coordination in rotarod test
• mice exhibit no preference for a stranger mouse or novel object in a test of voluntary social interaction

nervous system
• reduction in spine density of layer 2/3 pyramidal neurons in prefrontal cortex
• reduced striatal field pop spike amplitude in adults as compared to controls
• presynaptic function is not affected
• reduced NMDA receptor-mediated currents as compared to controls
• reduced mEPSC frequency in medium spiny neurons from adult mice as compared to controls
• small, but significant, reduction of mEPSC amplitude in medium spiny neurons from adult mice as compared to controls
• reduced mEPSC frequency in pyramidal neurons of prefrontal cortex in adult mice as compared to controls
• reduced mEPSC amplitude in prefrontal cortex in adult mice
• mEPSC frequency is increased in the prefrontal cortex at P14
• slightly impaired pulse inhibition (PPI)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
schizophrenia DOID:5419 OMIM:181500
J:230887


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory