The coding portion of the first exon along with some first intron sequence was deleted and a selection cassette was inserted in its place after the homologous recombination event. This selection cassette contains a Beta-Galactosidase marker (LacZ) and a Neomycin resistance (Neo) fragment to allow selection in ES cells. qPCR confirmed reduced expression of transcripts containing exon 1 and 2 in the brain. Western blot analysis confirmed the absence of full-length protein expression in the cortex. (J:94077, J:194991, J:209700)
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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
129S5/SvEvBrd
Targeted
Insertion, Intragenic deletion
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1
1
3

表型特征

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
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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