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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scn1atm1Wac
targeted mutation 1, William A Catterall
MGI:3665322
Summary 10 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scn1atm1Wac/Scn1atm1Wac B6.129-Scn1atm1Wac MGI:3690092
hm2
Scn1atm1Wac/Scn1atm1Wac involves: 129S1/Sv * 129X1/SvJ * FVB/NJ MGI:3818176
ht3
Scn1atm1Wac/Scn1a+ 129-Scn1atm1Wac MGI:3690094
ht4
Scn1atm1Wac/Scn1a+ B6.129-Scn1atm1Wac MGI:3690093
ht5
Scn1atm1Wac/Scn1a+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3690095
ht6
Scn1atm1Wac/Scn1a+ involves: 129S1/Sv * 129X1/SvJ * FVB/NJ MGI:3818175
cx7
Scn1atm1Wac/Scn1atm1Wac
Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ MGI:3818177
cx8
Scn1atm1Wac/Scn1a+
Scn8amed-jo/Scn8a+
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ MGI:3818178
cx9
Scn1atm1Wac/Scn1atm1Wac
Tg(Scn1a*)RH9Aesc/0
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ MGI:3851213
cx10
Scn1atm1Wac/Scn1a+
Tg(Scn1a*)RH9Aesc/0
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ MGI:3851214


Genotype
MGI:3690092
hm1
Allelic
Composition
Scn1atm1Wac/Scn1atm1Wac
Genetic
Background
B6.129-Scn1atm1Wac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die by P15; treatment with diazepam decreases seizure frequency but does not extend survival past P15

behavior/neurological
• problems progress to complete loss of postural control
• at P15, mice require longer to recover from supine to prone position than wild-type and display a pronounced lack of coordination
• beginning at P9, neurological abnormalities progress to include mild limb tremors
• beginning at P9, mutants exhibit ataxia
• beginning at P9, neurological abnormalities progress to include side-to-side swaying
• by P15, mutants become inactive except for periodic seizure activity
• beginning at P9, mutants exhibit seizures which progress in severity
• at P15, mice exhibit bilateral forelimb convulsive seizures
• at P15, mice display generalized clonic seizures

nervous system
• beginning at P9, mutants exhibit seizures which progress in severity
• at P15, mice exhibit bilateral forelimb convulsive seizures
• at P15, mice display generalized clonic seizures
• isolated hippocampal pyramidal neurons show a substantial decrease in sodium current levels
• current densities in homozygotes (pA = 41 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




Genotype
MGI:3818176
hm2
Allelic
Composition
Scn1atm1Wac/Scn1atm1Wac
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3690094
ht3
Allelic
Composition
Scn1atm1Wac/Scn1a+
Genetic
Background
129-Scn1atm1Wac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: spontaneous deaths are 4-fold less (10% in 15 weeks) than in heterozygotes on a hybrid (congenic B6.129) background and 8-fold less than on a C57BL/6 background




Genotype
MGI:3690093
ht4
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 (114 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
• 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 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
• 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




Genotype
MGI:3690095
ht5
Allelic
Composition
Scn1atm1Wac/Scn1a+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: ~80% of heterozygotes die by 13 weeks of age on this background, a much higher incidence than on a congenic background (40%) or a coisogenic background (10%)

reproductive system




Genotype
MGI:3818175
ht6
Allelic
Composition
Scn1atm1Wac/Scn1a+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40% of mice die by P50 and 100% of mice by P125

nervous system
• following exposure to flurothyl, 63% of mice exhibit generalized tonic-clonic seizure with reduced latency compared to 9% of similarly treated wild-type mice
• mice exhibit spontaneous tonic-clonic seizures
• mice exhibit ictal polyspike activity accompanied by stereotypic behavior unlike wild-type mice

behavior/neurological
• following exposure to flurothyl, 63% of mice exhibit generalized tonic-clonic seizure with reduced latency compared to 9% of similarly treated wild-type mice
• mice exhibit spontaneous tonic-clonic seizures
• mice exhibit ictal polyspike activity accompanied by stereotypic behavior unlike wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Dravet syndrome DOID:0080422 OMIM:607208
J:129998




Genotype
MGI:3818177
cx7
Allelic
Composition
Scn1atm1Wac/Scn1atm1Wac
Scn8amed-jo/Scn8a+
Genetic
Background
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
Scn8amed-jo mutation (1 available); any Scn8a mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice survive beyond P15 but die by P18




Genotype
MGI:3818178
cx8
Allelic
Composition
Scn1atm1Wac/Scn1a+
Scn8amed-jo/Scn8a+
Genetic
Background
involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
Scn8amed-jo mutation (1 available); any Scn8a mutation (99 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit no abnormal lethality through P150

nervous system
N
• mice exhibit a normal threshold to flurothyl-induced generalized tonic-clonic seizure
• unlike Scn1atm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components

behavior/neurological
• unlike Scn1atm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components




Genotype
MGI:3851213
cx9
Allelic
Composition
Scn1atm1Wac/Scn1atm1Wac
Tg(Scn1a*)RH9Aesc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
Tg(Scn1a*)RH9Aesc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• a few mice survive beyond weaning but mice rarely survive past 6 months of age
• unlike homozygous mice not carrying the transgene which all die by P15, most mice carrying the transgene die between P17 and P21




Genotype
MGI:3851214
cx10
Allelic
Composition
Scn1atm1Wac/Scn1a+
Tg(Scn1a*)RH9Aesc/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm1Wac mutation (0 available); any Scn1a mutation (114 available)
Tg(Scn1a*)RH9Aesc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• substantial improvement in life span compared to heterozygous mice not carrying the transgene; 50% survival at 6 months of age compared to 25%





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory