This allele contains a loxP-flanked STOP element - composed of a puromycin resistance cassette, in reverse orientation, followed by a series of four SV40 polyadenylation signals flanked by an adenoviral splice acceptor and splice donor - in intron 1, transcriptionally inactivating the gene. Exon 4 has been replaced by exon 4 of the human TRP53 gene, with the human arginine variant at codon 72 (dbSNP:rs1042522; 72R). Codon 270, in exon 8, which corresponds to human TRP53 codon 273, has been changed from the wild-type arginine to histidine (R270H). Upon Cre recombinase mediated excision of the STOP element, the mutant gene is activated in the tissues where Cre is expressed. (J:94077)
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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
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
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1
65
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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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