Version: 8.0.0
Date: Tue Jan 28 2025
Kcnq2tm1.1Lvi
MGI:6488172
Allele of Kcnq2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Kcnq2tm1.1Lvi

Species
Mus musculus
Symbol
Kcnq2tm1.1Lvi
Category
allele
Allele of gene
Kcnq2
Transgenic Constructs
None
Synonyms
  • Kcnq2T274M
  • Kcnq2Thr274Met
Description
An ACC to ATG change resulting in a threonine to methionine substitution at amino acid 274 (T274M) was introduced in exon 3d. This is a recurrent pathogenic variant identified in several patients with developmental and epileptic encephalopathy. A loxP flanked neomycin resistance cassette was also inserted upstream of exon 3d and removed via cre-mediated recombination.
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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Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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