Phenotypes Associated with This Genotype

Genotype
MGI:8246647

• Allelic Composition: Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Grin2d^em10Frk/Grin2d⁺
• Genetic Background: (B6.Cg-Edil3^{Tg(Sox2-cre)1Amc}/J x C57BL/6J-Grin2d^em10Frk/FrkJ)F1

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

mortality/aging

decreased survivor rate ( J:372150 )

• due to convulsive seizures. Approximately half die before wean age and fewer than 30% survive beyond 80 days.

sudden unexpected death in epilepsy ( J:372150 )

growth/size/body

decreased body weight ( J:372150 )

• growth delay leaves heterozygotes slightly smaller than normal throughout life

nervous system

absence seizures ( J:372150 )

abnormal spike wave discharge ( J:372150 )

• prominent epileptiform activity and multiple seizure types occur, including prolonged spike-wave discharge events that can persist for minutes and contribute to premature lethality.

decreased striatum size ( J:372150 )

hypothalamus hypoplasia ( J:372150 )

thalamus hypoplasia ( J:372150 )

cerebellum hypoplasia ( J:372150 )

abnormal synaptic bouton morphology ( J:372150 )

• presynaptic termini are enlarged

abnormal postsynaptic density morphology ( J:372150 )

• synaptic density in neurons is decreased

abnormal nervous system electrophysiology ( J:372150 )

• Purkinje cells show developmental changes in spontaneous firing frequency and synaptic response to N-methyl-D-aspartate

prolonged excitatory postsynaptic current decay time ( J:372150 )

• CA1 inhibitory neurons have a prolonged decay time constant

abnormal long-term potentiation ( J:372150 )

enhanced long-term potentiation ( J:372150 )

behavior/neurological

impaired spatial learning ( J:372150 )

limb grasping ( J:372150 )

impaired coordination ( J:372150 )

• evident by 3 weeks of age

decreased locomotor activity ( J:372150 )

• decreased voluntary movement at 10 days

excessive vocalization ( J:372150 )

absence seizures ( J:372150 )

abnormal spike wave discharge ( J:372150 )

• prominent epileptiform activity and multiple seizure types occur, including prolonged spike-wave discharge events that can persist for minutes and contribute to premature lethality.

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 46		DOID:0080456	OMIM:617162	J:372150