这个突变是在Jackson实验室通过电穿孔Cas9蛋白和指导序列AGCTTTACTGTATAAATATT和TTACTGATCTGCCCTCGCCC产生的,导致了8号染色体121,978,299到121,978,847bp位置的549bp缺失。这个变异删除了ENSMUSE00000605765(第4外显子)以及349bp的内含子序列,包括剪接点和起始点,预测会导致54号残基后的氨基酸序列改变以及后续11个氨基酸的早期截断。(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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