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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). (J:333512)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
