behavior/neurological
• females are hyperactive but do not develop perseverative circling
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• pups exhibit a shift in separation-induced ultrasonic vocalization pattern, with female pups exhibiting an approximate 2 day shift in the ultrasonic vocalization development curve, such that females do not persistently decrease their vocalizations from peak levels until P10 compared to P8 in wild-type females
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• young females are more likely to have a seizure when subjected to a loud sound stimulus compared to wild-type mice, however no spontaneous seizure activity is seen
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integument
• females exhibit a salt-and-pepper pigmentation pattern
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nervous system
• young females are more likely to have a seizure when subjected to a loud sound stimulus compared to wild-type mice, however no spontaneous seizure activity is seen
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• across a range of 17-45 days of age, females exhibit a prepulse inhibition deficit indicating impaired sensorimotor gating
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• across a range of 17-45 days of age, females exhibit a prepulse inhibition deficit but no difference in acoustic startle response
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pigmentation
• females exhibit a salt-and-pepper pigmentation pattern
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autism spectrum disorder | DOID:0060041 | J:167614 |