The 240 kb human bacterial artificial chromosome (BAC RP11-866L6), containing the entire 170 kb human Huntingtin genomic locus and approximately 20 kbp of 5' and 50 kbp of 3' flanking sequences and modified to replace the human HTT exon 1 with a loxP-flanked human mutant HTT exon 1 sequence containing 97 mixed CAA-CAG repeats encoding a continuous polyglutamine stretch was further modified to delete the first 17-amino-acid domain (N17; residues 2-16). This modified BAC containing both the 97Q and the deleted N17 domain was microinjected into FVB/NJ fertilized eggs. Three founders were established; N, L, and A. Line N and L show a similar level of expression. (J:219890)
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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
基因表达
相关疾病
参考文献
FVB/NJ
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Insertion
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1
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1

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
模型表型:
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