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CRISPR/Cas9 technology generated a G to A change at position 6307 (c.6307G>A) resulting in an alanine to threonine substitution at amino acid 2103 (p.A2103T), reported as p.A2105T. This single nucleotide substitution has been identified in human epilepsy. (J:324866)
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
