这个突变是在Jackson实验室通过电穿孔Cas9蛋白和两个引导序列(AGTGTATCCTGAGATACACA和ACAAGCCCAGATGATCCAGC)产生的,导致了10249bp的删除,起点在12号染色体76,427,616bp,终点在76,437,864bp(参考GRCm38/mm10基因组),影响了ENSMUSE00000449772、ENSMUSE00000449766、ENSMUSE00000449760、ENSMUSE00000449752和ENSMUSE00000449748(也就是4-8号外显子)以及9807bp的上下游内含子序列,包括剪接点和起始点。预测会导致从第79位氨基酸后发生序列变化,并在接下来的9个位置发生早期截断。(来源:J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
基因内删除
不确定
1
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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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