behavior/neurological
• impaired learning during learning reversal phase in a Morris water test
|
• greater response in cued-conditioning fear response
|
hyperactivity
(
J:86283
)
nervous system
• size of growth cone in hippocampal neurons greatly reduced
• actin cytoskeleton disrupted
• abnormal clusters of cofilin and actin
• abnormal shape of dendritic spines
|
• long term potentiation by high frequency stimulation enhanced while it was reduced or absent at low frequency
• reduced neurotransmitter release
• effect due to actin perturbation
|
cellular
• actin cytoskeleton disrupted in hippocampal cells, with abnormal clusters of cofilin and actin
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Williams-Beuren syndrome | DOID:1928 |
OMIM:194050 |
J:86283 |