A 12 kb genomic fragment of human SOD carrying the glycine to arginine substitution at amino acid 85 (G85R) fused to EYFP coding sequence through its C-terminal coding sequence in exon 5 was used as the transgene. The G85R mutation results in a misfolded protein associated with amyotrophic lateral sclerosis in humans and the mutant fusion protein behaves as a misfolded monomer. Southern blot analysis indicates that line 737 carries multiple transgene insertions. (J:144475)
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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/6J x SJL/J)F2
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Insertion
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1
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5

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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