电穿孔Cas9蛋白和指导序列GGGAGGGAACCACTGTCCCG和CTAGCTGAGGATATGTCCCC,导致了从染色体4的139,607,520bp位置开始,到139,607,769bp(GRCm38/mm10建模),一个250bp的删除。这个变异删除了ENSMUSE00001229038(第5外显子)以及110bp的内含子序列,包括剪接点的接受者和供体,预测会导致第316位氨基酸序列改变,并在接下来的4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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