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中文
CRISPR/Cas9通过sgRNA(靶向GGACCGGGATGATGTCAACG)和ssODN模板(CTCTGGAGAGTGTCTCTAACTTCCTGAAGGACTTTCTGCACAAGGACCGtGgTGATGTCAACGTtGAGATTGTCTTTCTTCACAAGTAAGAGCCCCCTGCTGCCACCAGACCCTGCCACC)进行基因组编辑，目的是将Asp(434)编码的密码子从GAT转换为Ser(GGT)，具体位置在ENSMUSP00000153247基因的p.D434G位置。这种变异与KCNMA1关联的通道病患者中的阵发性肌张力障碍有关。受影响的Asp残基位于AC域的alphaA和alphaB亚基，位于钾通道调节因子1(RCK1)域内。(引用：J:330716)
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
