growth/size/body
nervous system
• high frequency stimulation-induced long term potentiation is attenuated in hippocampal slices from mutants compared to wild-type mice
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• hippocampal neurons exhibit enhanced miniature excitatory neurotransmission; hippocampal neurons show an increase in mEPSC frequency with no change in mEPSC amplitude
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• paired-pulse facilitation is augmented in mutants at the interstimulus intervals of 30 and 50 ms
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behavior/neurological
• mutants display consistent freezing levels across all extinction trials, indicating impaired extinction learning
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• mutants exhibit an increase in freezing behavior in context (novel environment)-dependent fear conditioning 24 hours after training, suggesting enhanced associative learning
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• mutants exhibit an increase in freezing behavior in cue (auditory tone)-dependent fear conditioning 24 hours after training, suggesting enhanced associative learning
• however, mutants are incapable of extinguishing their conditioned response (freezing) to cue when cue is presented alone (without shock), indicating severe impairments in extinction learning and associative learning
• mutants do not show enhanced freezing behavior in the absence of a paired stimulus (baseline freezing) or before the tone in cued fear conditioning, suggesting that mutants learn to associate the cue with the shock
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• in the NOR task to test ability to recognize a novel object, mutants spend less time with the novel object than wild-type mice and show less preference for the novel object over the familiar indicating impaired episodic memory
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• in the elevated plus maze, mutants spend less time in the center, more time in the closed arms, and less time in the open arms compared with wild-type
• in the dark/light test, mutants spend less time in the light side and more time in the dark side, indicating heightened anxiety
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• mutants spend less time on the rotarod than wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
syndromic X-linked intellectual disability Lubs type | DOID:0060799 |
OMIM:300260 |
J:182685 |