在exon 11的第396位,苏氨酸(TCC)被替换为天冬氨酸(GAC),产生了一个等位基因(p.S396D),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术。这个突变使得编码的肽段始终处于活化状态,模拟了氯离子结合的状态。(来源:J:341102)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Endonuclease-mediated
核苷酸替换
--
1
2
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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