A targeting vector was designed to replace exon 19 with one specifying a change of glutamic acid to lysine at amino acid position 1179 (c.3535G>A (GAA-AAA)) , which is homologous to a human Glu1200Lys mutation correlated with stuttering. The targeting vector also contained an internal ribosome entry site (IRES) to allow initiation of translation of an inserted beta-galactoside gene (beta-gal) for subsequent gene expression studies in tissues, as well as a neomycin resistance cassette (PGK-Neo-pA) for selection of the transfected ES cells. Crossing mice with the targeted allele to a flp-expressing line removed the neomycin resistance cassette, and subsequent crossing into a cre-expressing line removed the IRES- gal component to generate BALB/c animals carrying the mutant exon 19 containing Glu1179Lys. (J:260041)
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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
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参考文献
BALB/cJ
Targeted
Nucleotide substitutions
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1
4
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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