mortality/aging
• at 12 to 20 days of age, mice exhibit myoclonic seizures accompanied by rapid jumping and running and die shortly after
|
nervous system
N |
• mice exhibit normal miniature inhibitory postsynaptic current frequency and amplitude and inhibitory postsynaptic currents
|
• mice exhibit an increase in spontaneous epileptiform discharge compared with wild-type mice
• however, firing frequency and spikes as well as resting membrane potential are normal
|
• at 12 to 20 days of age, mice exhibit myoclonic seizures unlike wild-type mice accompanied by rapid jumping and running and die shortly after
|
• AMPA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice
|
• NMDA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice
|
• mice exhibit increased frequency of miniature excitatory postsynaptic currents compared with wild-type mice
|
growth/size/body
• slight in some mice
|
behavior/neurological
• mice exhibit an increase in spontaneous epileptiform discharge compared with wild-type mice
• however, firing frequency and spikes as well as resting membrane potential are normal
|
• at 12 to 20 days of age, mice exhibit myoclonic seizures unlike wild-type mice accompanied by rapid jumping and running and die shortly after
|
pigmentation
• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyrc-Brd control mice
|
• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyrc-Brd control mice
|
vision/eye
• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyrc-Brd control mice
|
integument
• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyrc-Brd control mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
familial temporal lobe epilepsy 1 | DOID:0060748 |
OMIM:600512 |
J:158715 |