A targeting vector was designed to flank exons 8-10 with loxP sites. Cre mediated recombination resulted in the excision of those exons. Northern blot detected a truncated transcript in mutant brain samples. RT-PCR and sequencing revealed that the correct exons were deleted and that most mutants were lacking exon 7 due to alternative splicing. The deletions created a frameshift mutation beyond exon 6 or 7, resulting in truncated proteins beyond those exons. (J:106803)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
129P2/OlaHsd
Targeted
Intragenic deletion
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1
1
5

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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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N: 正常表型
(#): 上标括号内为相关疾病数量
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