A targeting vector containing (5' to 3'): human BRCA1 exons 2 to 14 - loxP site - F3 mutant FRT site - Puromycin cassette - F3 mutant FRT site - human BRCA1 exons 15 to 23 - mouse Brca1 3' UTR - HGHpA - loxP site - human mutant BRCA1 exons 15 to 23 (including the 5382insC point mutation in exon 19) - mouse Brca1 3' UTR - HGHpA - FRT - NEO cassette - FRT, was used to replace the coding region in exon 2 and the splice donor-site in intron 2 of the mouse Brca1 gene.The 5382insC point mutation inserts a cytosine at position 5382 resulting in a premature translation initiation codon in exon 23. Transient flp-mediated recombination removed both the puro and neo cassettes. Cre-mediated recombination removes human wild-type BRCA1 exons 15-23 and allows transcription of the 5382insC mutation. (J:240315)
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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
C57BL/6NTac
Targeted
Insertion, Intergenic deletion
--
1
22
1

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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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