The first exon (exon S) was replaced with a floxed full-length cDNA copy of the gene followed by a PGK-neo-loxP cassette and a tau-lacZ cassette. The PGK-neo-loxP cassette was removed in correctly targeted ES cells via transient expression of cre recombinase, leaving the floxed cDNA and tau-lacZ cassette intact. Expression of the floxed cDNA is under the control of the endogenous promoter. The tau-lacZ sequence is not transcribed due to SV40 polyadenylation signals and multiple stop codons following the floxed cDNA. Northern blot analysis of brain from homozygous mutant animals shows the presence of only full-length transcripts. Multiple alternative transcripts observed in wild-type animals are absent. Gene expression and protein expression in mutant animals is approximately 33% and 24% that of wild-type, respectively. Immunohistochemical analysis demonstrated that only full-length protein, and no protein isoforms, are expressed in mutant animals, and the pattern of expression is similar to wild-type. (J:69123)
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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
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
5
20

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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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