A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4 of the gene. A missense mutation T158M found in humans carrying the neurological disorder Rett Syndrome (RTT) was introduced to exon 4. A 23 amino acid Tavi tag, allowing MECP2 protein to be biotinylated in the presence of E. coli biotin ligase, BirA, was introduced immediately upstream of Mecp2 stop codon. Cre-mediated recombination removed the upstream floxed neo cassette. (J:251147)
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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
129
Targeted
Insertion, Nucleotide substitutions
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1
15
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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