Oligo-based site-directed mutagenesis was use to mutate codon 177 from AAG to ACC (K154T), and codon 342 from CAG to CTG (Q319L) in the mature mouse protein. Expression is driven by the CAG promoter (the chicken beta-actin (Actb) promoter with a CMV immediate-early enhancer). The 2 amino acid substitutions more than triple the functional half-life of the protein and expression is increased approximately 170-fold over wildtype. Quantitative PCR reveals elevated expression in brain, heart, lung, liver, spleen, intestine, kidney, fat, skin, and muscle (strongest in liver, brain, heart and kidney). Immunohistochemistry reveals expression in kidney, liver, spleen, and lung. (J:167969)
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基础信息

模型ID
品系来源
等位基因类型
突变
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(C57BL/6 x SJL)F1
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Insertion
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1
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2

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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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