This transgene was constructed by ligating the rat insulin II promoter to human cDNA associated with maturity-onset diabetes of the young, type III (MODY III). The human genetic sequence included a mutation found in a subject with MODY III, and had a frameshift mutation of codon pro291, resulting from insertion of a C in a poly(C) tract. (The investigators designated this mutation P291fsinsC, proline 291 frameshift insertion C.) In human subjects the mutation was predicted to result in a mutant truncated protein of 340 amino acids. Two transgenic mouse lines were established, one with 5 copies of the transgene, and one with 20. As both lines showed a similar phenotype, only one is described below, the line with 20 copies of the transgene. (J:73760)
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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/6 x SJL)F2
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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
模型表型:
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