使用sgRNA(靶向ATTTTTTACGGCAATGTCGA)和ssODN模板,通过CRISPR/Cas9技术,第15外显子的酪氨酸密码子(CTG,对应TGT)被替换为苯丙氨酸(CTT,TAT),导致c.1694G>A(等位基因)和p.C565Y(等位密码子)的变异。同时,两个无义突变被引入以形成AclI酶切位点,作为诊断标记。这个突变模拟了人类与感觉神经性听力损失(SNHI)相关的变异,但在小鼠中不会导致耳聋(来源:J:321807)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
单点
--
1
9
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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