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Lysine codon 228 (AAA) in exon 1 was changed to glutamic acid (GAA) (c.682A>G p.K228E) using an sgRNA and an ssODN template with CRISPR/cas9 technology. p.K228E was identified in a patient with autism. (J:339271)
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
