Allele/Variant

Kcnt1em1Lekk

Species
Mus musculus
Symbol
Kcnt1em1Lekk
Category
allele
Allele of gene
Kcnt1
Transgenic Constructs
None
Synonyms
  • Kcnt1R455H
  • SlackR455H
Description
Arginine codon 455 (CGA) in exon 15 was changed to histidine (CAC) (p.R455H) using an sgRNA (equivalent to CCAGACCATCCTTCGAGCCTGGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R474H mutation associated with epilepsy of infancy with migrating partial seizures of infancy (EIMFS) or malignant migrating partial seizures of infancy (MMPSI).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
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