CRISPR/cas9基因编辑用来产生H288D的错义突变,这个突变对应于人类的H310D临床变异,与Zellweger综合症和Peroxisome生物合成障碍类型6A和6B相关。此外,还加入了C286C(由TGT变为TGC)和G287G(由GGC变为GGT)这两个silent核苷酸变化,以提高效率,避免引导RNA的再结合和CRISPR/Cas9对修改等位基因的重新定向。(来源:J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
核苷酸替换
--
1
8
--

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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