Allele/Variant

Scn1btm1.1Bion

Species
Mus musculus
Symbol
Scn1btm1.1Bion
Category
allele
Allele of gene
Scn1b
Transgenic Constructs
None
Synonyms
  • beta1C121W
  • Scn1bW
Description
Exon 3 was replaced with one in which a C to G transversion (C387G) results in the amino acid substitution of tryptophan for cysteine at position 121 (C121W), mimicking a mutation found in some genetic epilepsy with febrile seizures plus (GEFS+) patients. A loxP was inserted upstream of the modified exon 3. A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. The modified exon 3 remains floxed.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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