CRISPR/Cas9 technology generated a 2 bp deletion with a 4 bp insertion at the very beginning of exon 17 resulting in a frameshift starting from residue G2871 which is expected to result in truncation of the last two exons which encode the C-terminal microtubule-binding domain and the farnesylation motif. Western blot analysis with an antibody against the C-terminus confirmed that the C-terminus is missing. Western blot with an antibody against an epitope upstream of the truncation show reduced protein levels. However, quantitative RT-PCR did not detect differences in mRNA levels, indicating that protein is destabilized. (J:273098)
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(C57BL/6 x DBA/2)F1
Endonuclease-mediated
Insertion, Intragenic deletion
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1
1
1

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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(#): 上标括号内为相关疾病数量
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