Phenotypes Associated with This Genotype

Genotype
MGI:5447490

• Allelic Composition: Scn1a^tm2.1Wac/Scn1a⁺; Tg(I12b-cre)1Jlr/0
• Genetic Background: involves: C57BL/6J * CD-1

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

mortality/aging

premature death ( J:189897 )

• only 30% of mice survive to 90 days of age

• mice die 4-48 h after initial seizure onset

postnatal lethality, incomplete penetrance ( J:189897 )

• mice begin to die in the third postnatal week

behavior/neurological

seizures ( J:189897 )

• spontaneous seizures are seen in about 1/3 of mice

• mice die 4-48 h after initial seizure onset

environmentally induced seizures ( J:189897 )

• elevation of body temperature induces seizure (mean temperature for seizure induction: 39.6 ^oC)

clonic seizures ( J:189897 )

• seizures begin with forelimb clonus and progress in both frequency and severity through forelimb clonus with rearing

tonic-clonic seizures ( J:189897 )

• seizures eventually culminate in generalized tonic-clonic seizure

nervous system

seizures ( J:189897 )

• spontaneous seizures are seen in about 1/3 of mice

• mice die 4-48 h after initial seizure onset

environmentally induced seizures ( J:189897 )

• elevation of body temperature induces seizure (mean temperature for seizure induction: 39.6 ^oC)

clonic seizures ( J:189897 )

• seizures begin with forelimb clonus and progress in both frequency and severity through forelimb clonus with rearing

tonic-clonic seizures ( J:189897 )

• seizures eventually culminate in generalized tonic-clonic seizure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Dravet syndrome		DOID:0080422	OMIM:607208	J:189897