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Phenotypes Associated with This Genotype
Genotype
MGI:3690093
Allelic
Composition
Scn1atm1Wac/Scn1a+
Genetic
Background
B6.129-Scn1atm1Wac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: sporadic deaths are first seen in heterozygotes during weaning period, between P21 and P27; often, mice are found dead with hindlimbs outstretched and front paws tucked under the chin
• Background Sensitivity: many mice die during third postnatal week and 40% die by 15th week; this is more than on a coisogenic 129 background but less than on a mixed background

behavior/neurological
• heterozygotes first display recurring seizures between P21 and P21

nervous system
• heterozygotes first display recurring seizures between P21 and P21
• during periods of continuous EEG recording, occurrence of spontaneous electrographic seizures can be observed as well as epileptiform interictal activity
• seizures begin with stereotypic behaviors such as Staub tail, myoclonic jerks and hindlimb flexions, progress to forelimb clonus and head bobbing and finish with relaxed muscle tone and an isoelectric period
• isolated hippocampal pyramidal neurons show a substantial decrease in sodium current levels
• current densities in heterozygotes (pA = 70 pA/pF) are decreased compared to wild-type (pA = 149 pA/pF)
• amplitude of the action potential is reduced and width is increased in response to injection of depolarizing current compared to wild-type interneurons
• peak of action potential is greater and minimum voltage after the action potential is more negative in wild-type compared to mutant interneurons
• during periods of continuous EEG recording, occurrence of spontaneous electrographic seizures can be observed as well as epileptiform interictal activity

Mouse Models of Human Disease
OMIM ID Ref(s)
Epileptic Encephalopathy, Early Infantile, 6; EIEE6 607208 J:113149


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory