Kcnt1^em1Pqt

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Species

Mus musculus

Symbol

Kcnt1^em1Pqt

Category

allele

Allele of gene

Kcnt1

Transgenic Constructs

None

Synonyms

• L

Description

CRISPR/Cas9 technology generated to C to T change at position c.2714 resulting in a proline to leucine substitution at amino acid 905 (p.P905L). This is equivalent to the p.P924L pathogenic variant found in two patients with epilepsy of infancy with migrating focal seizures (known as developmental and epileptic encephalopathy 14).

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations