behavior/neurological
• mice with a paternally inherited duplication (patDp/+) exhibit impaired delay eye blink conditioning, showing fewer conditioned responses than wild-type mice
• impairments in learning in patDp/+ mice are specific to de novo acquisition and are not accompanied by deficiencies in blink representation, extinction, or re-acquisition
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• patDp/+ mice exhibit a greater stance width in the forelimbs during locomotion, longer stride length, reduced stride frequency, and enhanced propulsion duration, indicating a mild motor impairment
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• patDp/+ mice show a longer stride length
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nervous system
• young patDP/+ mice exhibit a higher number of Purkinje cells that are innervated by multiple climbing fibers than in wild-type mice, suggesting impaired synaptic pruning, while adults mice show climbing fiber elimination, a mild impairment of the pruning process persists
• however, patDP/+ mice do not exhibit cerebellar or Purkinje cell dendrite abnormalities
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• long-term depression at cerebellar parallel fiber-Purkinje cell synapses is impaired, however LTP is unaffected
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autism spectrum disorder | DOID:0060041 | J:225285 |