Three point mutations were introduced into exon 2 using a "hit and run" type vector. One mutation (C795T; numbering based on MGI ID: D16388) introduces an in-frame stop codon (R242X) that is predicted to stop translation at the beginning of the third cytoplasmic loop of the receptor, resulting in a nonfunctional protein. The other two mutations (C798G; G799A) introduce an EcoRI site that is used for genotyping. Sequencing of mRNA confirmed expression of the mutant allele in homozygous mice. Expression of the PKN1 gene present on the opposite antisense strand was unaffected as determined by immunoprecipitation of brain and kidney lysates. (J:127410)
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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
129S6/SvEvTac
Targeted
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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N: 正常表型
(#): 上标括号内为相关疾病数量
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