behavior/neurological
• mutants are more sensitive to kainic acid induced seizures than controls, with seizures being more severe and progressing more rapidly to each seizure stage
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• in the olfactory habituation/dishabituation test, mutants show normal responses to non-social odors, however they spend much less time interacting with unfamiliar social odors than controls
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• while mice show normal learning in the acquisition session of a learning task in the T-maze, in the reversal learning session they show a lower number of successful trials and require more time to reach an escape platform, indicating less ability to adapt behavior to a novel situation
• mice treated with clonazepam show improved reversal learning in the T-maze test
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• in the social dominance tube test, mutants rarely win against unfamiliar mice, suggesting that mutants are socially subordinate and tend to avoid passive social contact with unfamiliar mice
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• mutants spend more than twice as much time on repetitive self-grooming, persisting intermittently for an unusually long period
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• 68.2% of mutants show severe limb-clasping behavior when suspended by the tail
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• mutants stay on an accelerating rotarod for less time than controls
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• in the marble-burying test, mutants have more than 2-fold higher activity of repetitive digging
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• in a reciprocal social interaction test, mutants spend less time on close huddling
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• in a reciprocal social interaction test, mutants spend less time on social activities such as nose-to-nose sniffing, anogenital sniffing, and close huddling and the rate of successful social interactions is lower
• mutants frequently show apathetic or avoidance responses to approach from the stimulator mouse, resulting in poor success rate of social interactions
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• mice show normal voluntary sociability, however in a subsequent familiar-stranger session in which a novel stranger mouse is placed in the previously empty wired cage, mice do not show a preference for social novelty and show a tendency to spend more time with a familiar stranger mouse
• mice treated with clonazepam, a benzodiazepine agonist for GABA(A)R, show almost completely normalized preference for social novelty
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• mutant pups emit ultrasonic vocalizations much less frequently after P7 and require more time to emit the first call on P14
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nervous system
• mutants are more sensitive to kainic acid induced seizures than controls, with seizures being more severe and progressing more rapidly to each seizure stage
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• the miniature inhibitory postsynaptic current (mIPSC) amplitude of hippocampal CA1 pyramidal cells is smaller, indicating that postsynaptic responsiveness to inhibitory inputs is attenuated
• however, no differences are seen in mIPSC frequency, indicating normal presynaptic neurotransmitter release
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autism spectrum disorder | DOID:0060041 | J:236753 |