CRISPR引导的工具在exon 5插入了GTG替换为ATC,导致了第254位氨基酸从异亮氨酸变为缬氨酸(V254I),同时还有两个上游的沉默核苷酸突变。这个等位基因模拟了人类对抗莱氏病(由麻风杆菌引起)和克罗恩病的保护性‘无风险’变异(J:244365)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Endonuclease-mediated
单点
--
1
2
3

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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