CRISPR/Cas9基因编辑通过在477和478位点插入TCC AGT替换为TCA GCT,产生了S478A的苏氨酸到异亮氨酸的点突变。TGuide RNA、供体寡核苷酸和Cas9酶被导入来自C57BL/6J雄性和Per2tm1Jt来源胚胎的细胞质中,这些胚胎具有明显的极体。通过PCR amplicon测序区分129和C57BL/6J基因型,筛选出在129基因型中,Per2tm1Jt基因座内插入S478A突变的个体。这个突变等位基因包含了S478A变异、一个荧光素酶基因以及在第23外显子和3' UTR之间插入的失活neo cassette。(来源:J:288606)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Endonuclease-mediated
核苷酸替换
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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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