growth/size/body
microcephaly
(
J:254983
)
nervous system
• reduction in brain volume
|
• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies
• however, no differences in long term depression (LTD) after 15 min of 1 Hz stimulation are seen, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Pitt-Hopkins syndrome | DOID:0060488 |
OMIM:610954 |
J:254983 |