CRISPR/cas9基因编辑使用了指导RNA(CTCCCATCCACAGGCTGCGC和TTCCAGCGCAGCCTGTGGAT),它们来切割DNA,并通过一个单链寡聚物供体,带有无义突变F290F(由TTC替换为TTT)和错义突变R292C(由CGC替换为TGC,arginine替换为 cysteine),发生于exon 4。这种突变与人类的R309C等同,与Polg相关的一些线粒体疾病关联。(来源:J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N-Atm1Brd
Endonuclease-mediated
核苷酸替换
--
1
23
--

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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