The transgenic construct contains the entire mutant human SERPINA1 gene under its endogenous promoters (both hepatocyte and macrophage) including a glutamic acid to lysine substitution at residue 366 (E366K, also designated E342K; G to A) plus 5 kB of the 5' and 3 kb of the 3' flanking genomic DNA sequences. Founder 1 carries 5-6 copies of the transgene. The nomenclature differences are accounted for by the fact that the mature protein following cleavage of the 24 amino acid signal peptide at N terminus is not comparable to the gene sequence. In the whole coding area, 366 is the location of the G to A mutation associated with the Z allele. In the mature protein the sample amino acid is 342. (J:329417)
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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
C57BL/6J
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Insertion
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1
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2

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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