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CRISPR-Cas9 technology generated a 2 base pair deletion (c.969_970delCT) in the alternatively-spliced micro-exon 4 (equivalent to micro-exon 3 in human) resulting in a substitution of threonine for serine at residue 324 followed by a translation frameshift resulting in a premature translation stop codon three codons downstream (S324Tfs*3). This is one of the pathogenic variants associated with early infantile epileptic encephalopathy. (J:273646)
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
