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CRISPR/Cas9 genome editing is used to introduce an A>T point mutation at nucleotide 1837 (converting arginine (R) 613 to a STOP (X) codon) and a silent C>T mutation at position 1833 into exon 12. Mutations in Scn1a are associated with Dravet Syndrome. (J:101977)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
