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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 (73 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
• in the context-dependent fear-conditioning test, mice show reduced freezing behavior when returned to the shock cage 30 min and 24 hours later, indicating loss of fear-associated freezing behavior
• in the Barnes circular maze test, mice fail to improve their learning performance during 4 days of training
• in the Barnes circular maze test, mice have reduced spatial memory during probe trails at day 5
• mice enter open arms less frequently than wild-type mice and spend less time in the open arms of the elevated plus maze
• mice exhibit increased immobility behavior when encountering a caged stranger mouse; this immobilization decreases distance traveled and increases immobilization time by 400%
• adults spend less time in the center of the open field
• adults spend more time self-grooming
• adults travel father than wild-type mice during a 10 minute open-field test
• mice show increased circling behavior
• in a social odor test, mice show no preference for bedding from mouse cages as seen in wild-type mice, however mice exhibit normal olfaction in a food scent test
• in a Y-maze olfactory choice test, mice strongly avoid banana and male urine while wild-type mice have a strong preference for both
• mice fail to show habituation/dishabituation to banana or male urine, but show normal response to food
• however, mice have increased digging behavior when banana and male urine are presented, indicating detection of odors
• mice exhibit decreased nest-building activity
• mice interact less with a caged stranger mouse in an open field than wild-type mice
• in reciprocal social interactions, mice show decreased duration of both non-aggressive and aggressive interactions
• mice exhibit increased immobility behavior when encountering a caged stranger mouse; this immobilization decreases distance traveled and increases immobilization time by 400%
• in a close-interaction analysis, mice avoid interacting with male social cues
• mice show no preference for the stranger mouse in a three-chamber test and show no discrimination between a new and a familiar mouse when a second stranger mouse is added, event though mice show preference for new objects
• mice show no preference for the caged mouse when both an inanimate object and a caged stranger mouse are introduced simultaneously compared to wild-type mice that show a preference for the mouse
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory