A transgene was generated encoding the murine mutant cholinergic receptor, nicotinic, epsilon polypeptide (Chrne*L269F) under control of a murine creatine kinase, muscle (Ckm) promoter. A point mutation was introduced resulting in the epsilonL269F mutation as present in the affected members of two families with the slow-channel congenital myasthenic syndrome (SCCMS). The 3' untranslated end of the epsilonL269F cDNA was removed and replaced with the 3' UTR pf the neomycin resistance gene (neo) and an intron from the SV40 small t intron. Line 5 was generated. (J:193524)
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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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参考文献
FVB/NJ
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Insertion
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1
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8

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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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(#): 上标括号内为相关疾病数量
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