The endogenous gene was modified by introduction of a mutation resulting in replacement of alanine by serine at amino acid position 96 of the protein (A96S) and, downstream of the gene, an internal ribosomal entry site (IRES), the coding sequence for enhanced green fluorescent protein (EGFP) and a frt site-flanked neomycin resistance cassette. The A96S mutation, which lies within the highly conserved pore-forming domain of the protein, was identified in a patient who experienced extended periods of atrial fibrillation. (J:205109)
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基础信息

模型ID
品系来源
等位基因类型
突变
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相关基因
相关疾病
参考文献
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Nucleotide substitutions
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1
5
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
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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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