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中文
CRISPR/cas9基因编辑使用了指导RNA(TCAATACGGAGTCTCGGTAA, GTCAATACGGAGTCTCGGTA, 和 TGTCAATACGGAGTCTCGGTA)，目标定位在exon 11。构建了带有P305L突变(由CCT替换为CTT，脯氨酸替换为亮氨酸)和一个无义突变I304I(由ATC变为ATA)，引入Setl座的供体DNA。P305L(脯氨酸到亮氨酸)的突变在KIF1A相关神经发育障碍(KAND)患者的病症中被识别出来，这是一种神经退行性疾病。(来源：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
