A 5.3kb region, encompassing exons 4 through 18, was replaced by an Hprt minigene. The vector was designed such that the excision of the inserted cassette and potential subsequent splicing of exon 3 to exon 19 would introduce a frameshift mutation. Such a transcript was not found, however, a fusion transcript consisting of the first three exons of the endogenous gene aberrantly spliced to exons 3 through 9 of the Hprt transgene was identified by RT-PCR and sequence analysis. Because exons 1 through 3 encode a putatively non-functional region of the protein, the mutation was believed to be null. (J:69769)
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突变
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129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Intragenic deletion
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1
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56

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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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