Version: 8.0.0
Date: Tue Jan 28 2025
Scn1atm1.1Aesc
MGI:4458373
Allele of Scn1a
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Scn1atm1.1Aesc

Species
Mus musculus
Symbol
Scn1atm1.1Aesc
Category
allele
Allele of gene
Scn1a
Transgenic Constructs
None
Synonyms
  • Scn1aR1648H
  • Scn1aRH
Description
Exon 26 was replaced with an frt flanked neo cassette and a modified exon 26 in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 1648 (R1648H), mimicking a mutation found in human generalized epilepsy with febrile seizures plus (GEFS+) patients. Flp mediated recombination removed the neo cassette.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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