A substitution corresponding to a human disease-associated mutation that result in the amino acid substitution of methionine for threonine at position 5 (T5M) was created and downstream of the gene a construct containing an IRES, lacZ with a nuclear localization signal, and an FRT-flanked neo cassette was inserted. Flp-mediated recombination removed the neo cassette. Reduced protein expression was confirmed by western blot analysis. (J:166362)
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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
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion, Nucleotide substitutions
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1
9
8

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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