Analysis Tools
growth/size/body
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• at 1 and 2 months of age, males show a modest reduction in body weight (~90% of wild-type) in the absence of other physical phenotypes
• however, body weight of females is unaffected
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nervous system
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• under competitive culture conditions, mutant primary cortical neurons co-cultured with wild-type neurons exhibit defects in synaptic localization of GABA type A receptors (GABAARs) resulting in loss of innervation by wild-type neurons
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• under competitive culture conditions, mutant primary cortical neurons co-cultured with wild-type neurons show deficits in GABAARs clustering and inhibitory synapse density, with a drastic reduction in the density of both presynaptic glutamic acid decarboxylase (GAD)-immunoreactive puncta and postsynaptic gamma2-immunoreactive puncta but no changes in their colocalization or the size of gamma2 puncta relative to wild-type controls
• however, in pure cultures, mutant primary cortical neurons show normal density of GABAARs clusters and inhibitory synapse formation with no changes in the density of GAD or gamma2 puncta, their colocalization or the size of gamma2 puncta relative to wild-type controls
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• under competitive culture conditions, mutant primary cortical neurons co-cultured with an excess of wild-type neurons exhibit decreased accumulation of GABAARs at synapses along with reduced GABAergic innervation and synaptic function
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homeostasis/metabolism
| N |
• hippocampal brain slices from mutant mice show normal cell surface expression of the gamma2 and GluA2/3 subunits of GABAARs and AMPARs, respectively
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• palmitoylation of the gamma2 subunit of GABAARs and of a second substrate GAP-43 (also implicated in trafficking of GABAARs) is significantly reduced in whole brain extracts relative to wild-type controls
• however, palmitoylation of PSD-95 and of the AMPA receptor (AMPAR) subunits GluA2/3 is normal in brain extracts
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behavior/neurological
| N |
• mice exhibit no overt behavioral phenotypes
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