在exon 21的第777位,酪氨酸(Trp)被替换成了histidine(His),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术,这是一项导致钠通道对钠敏感性增高的功能突变(p.Y777H,引用J:333464)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
单点
--
1
7
1

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

References Literature

Title
PMID
Journal
Year
IF
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