Phenotypes Associated with This Genotype

Genotype
MGI:5698534

• Allelic Composition: Syn1^tm1Pggd/Syn1^tm1Pggd; Syn2^tm1Pggd/Syn2^tm1Pggd; Syn3^tm1Pggd/Syn3^tm1Pggd
• Genetic Background: involves: 129 * 129P2/OlaHsd * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

environmentally induced seizures ( J:175256 )

♀ • opening of the home cage of adult mutants induces generalized tonic-clonic seizures that correlate with high amplitude and high frequency generalized synchronized activity followed by post-ictal depression in the theta frequency rage (3-6 Hz)

♀ • seizures commence within seconds of cage opening and include vocalization, freezing, tail stiffing, back arching, bilateral limb movements, and loss of posture, followed by stereotypical grooming behavior

♀ • the symptomatic seizure state is characterized by resistance to the epileptiform-promoting effects of 4-aminopyridine, by hypersensitivity to blockage of GABA(A) receptors and by the emergence of unresponsiveness to NMDA receptor antagonism

tonic-clonic seizures ( J:175256 )

♀ • opening of the home cage of adult mutants induces generalized tonic-clonic seizures

♀ • however, mice exhibit spontaneous seizures only vary rarely

nervous system

environmentally induced seizures ( J:175256 )

♀ • opening of the home cage of adult mutants induces generalized tonic-clonic seizures that correlate with high amplitude and high frequency generalized synchronized activity followed by post-ictal depression in the theta frequency rage (3-6 Hz)

♀ • seizures commence within seconds of cage opening and include vocalization, freezing, tail stiffing, back arching, bilateral limb movements, and loss of posture, followed by stereotypical grooming behavior

♀ • the symptomatic seizure state is characterized by resistance to the epileptiform-promoting effects of 4-aminopyridine, by hypersensitivity to blockage of GABA(A) receptors and by the emergence of unresponsiveness to NMDA receptor antagonism

tonic-clonic seizures ( J:175256 )

♀ • opening of the home cage of adult mutants induces generalized tonic-clonic seizures

♀ • however, mice exhibit spontaneous seizures only vary rarely

abnormal brain wave pattern ( J:175256 )

♀ • EEG indicates an abrupt transition during early adulthood from a seizure-free presymptomatic latent state to a consistent symptomatic state of sensory-induced seizures

♀ • EEG indicates that during the latent period, larger field responses are elicited in slices from mutants than in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:175256