由于重组异常,原本设计用于在exon 2区域插入一个带有floxed neo cassette的靶向载体,错误地插入到了intron 3。内源性exon 2保持不变,随后是intron 1的重复区域、载体衍生的exon 2被floxed neo cassette打断,以及intron 2的重复部分。测序结果显示,插入点处额外检测到24bp的未知来源序列。这导致了Npc2 mRNA的严重剪接错误,通过RT-PCR和western blotting分别检测到的野生型水平正确剪接的mRNA和蛋白分别只有大约4%。(来源:J:89617)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入
--
1
7
13

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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