Phenotypes Associated with This Genotype

Genotype
MGI:5523884

• Allelic Composition: Scn1a^tm2.1Kzy/Scn1a^tm2.1Kzy; Tg(Slc32a1-cre)65Kzy/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:202863 )

• all mice die by P15; average lifespan is 12.8 days

behavior/neurological

decreased locomotor activity ( J:202863 )

• mice are normal until P10, then behavioral hypoactivity is observed, except for myoclonic-like jerky movements

convulsive seizures ( J:202863 )

nervous system

convulsive seizures ( J:202863 )

abnormal hippocampus neuron morphology ( J:202863 )

• at P12.5, almost all Scn1a +ve (Nav1.1) neurons are almost undetectable

abnormal neocortex morphology ( J:202863 )

• at P12.5, almost all Scn1a +ve (Nav1.1) neurons are almost undetectable

abnormal cerebellar molecular layer ( J:202863 )

• at P12.5, almost all Scn1a +ve (Nav1.1) fibers are almost absent in the inner molecular layer of the cerebellum; however only a slight decrease is observed at the boundary between Purkinje and granule cell layers