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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scn1atm2.1Wac
targeted mutation 2.1, William A Catterall
MGI:5447489
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Scn1atm2.1Wac/Scn1a+
Tg(I12b-cre)1Jlr/0
involves: 129X1/SvJ * C57BL/6J MGI:6274702
cn2
Scn1atm2.1Wac/Scn1a+
Tg(I12b-cre)1Jlr/0
involves: C57BL/6J * CD-1 MGI:5447490


Genotype
MGI:6274702
cn1
Allelic
Composition
Scn1atm2.1Wac/Scn1a+
Tg(I12b-cre)1Jlr/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm2.1Wac mutation (1 available); any Scn1a mutation (114 available)
Tg(I12b-cre)1Jlr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in contextual fear-conditioning test, mice show less freezing behavior in the 30 min and 24 hours after training
• mice treated with clonazepam show rescue of impaired context-dependent fear conditioning
• in the elevated-plus maze, mice enter the open arms less frequently and spend less time in the open arms
• mice spend less time in the center of the open field
• mice travel more in the open field
• mice exhibit increased circling behavior
• in the open field social interaction test, mice spend less time interacting with the caged stranger mouse
• in the three-chamber social preference test, mice show no preference for the stranger mouse over an inanimate object
• mice treated with clonazepam, a positive allosteric modulator of the GABA-A receptor, show rescue of impaired social behaviors in the open arena and three-chamber test and this effect is reversed after 1 week clearing period

nervous system
• frequency of spontaneous EPSCs in hippocampal CA1 and prefrontal cortex slices is increased
• treatment with clonazepam leads to a decrease in frequency of spontaneous EPSCs, without change in amplitude
• frequency of spontaneous IPSCs in hippocampal CA1 and prefrontal cortex slices is reduced
• treatment with clonazepam increases spontaneous IPSC amplitude in the hippocampal CA1 region, but not frequency

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:188126
Dravet syndrome DOID:0080422 OMIM:607208
J:188126




Genotype
MGI:5447490
cn2
Allelic
Composition
Scn1atm2.1Wac/Scn1a+
Tg(I12b-cre)1Jlr/0
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1atm2.1Wac mutation (1 available); any Scn1a mutation (114 available)
Tg(I12b-cre)1Jlr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 30% of mice survive to 90 days of age
• mice die 4-48 h after initial seizure onset
• mice begin to die in the third postnatal week

behavior/neurological
• spontaneous seizures are seen in about 1/3 of mice
• mice die 4-48 h after initial seizure onset
• elevation of body temperature induces seizure (mean temperature for seizure induction: 39.6 oC)
• seizures begin with forelimb clonus and progress in both frequency and severity through forelimb clonus with rearing
• seizures eventually culminate in generalized tonic-clonic seizure

nervous system
• spontaneous seizures are seen in about 1/3 of mice
• mice die 4-48 h after initial seizure onset
• elevation of body temperature induces seizure (mean temperature for seizure induction: 39.6 oC)
• seizures begin with forelimb clonus and progress in both frequency and severity through forelimb clonus with rearing
• 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





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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
11/12/2024
MGI 6.24
The Jackson Laboratory