Exon 1 was deleted by crossing animals carrying mutant allele Numbtm1Lso to the cre deleter line TgN(EIIa-cre)C5379Lmgd. Homozygous mutant embryos were observed up to day E10.5. RT-PCR analysis detected a mutant transcript lacking exon 1, and Western blot analysis detected a 65 kDa protein product presumably translated from methionine 55 of the mutant transcript. The truncated protein would not be functional since it lacks the arginine at position 53 required for binding activity. (J:68652)
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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
129/Sv
Targeted
Intragenic deletion
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1
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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
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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