Histidine codon 131 (CAC) in the single exon was changed to glutamine (CAG) (p.H131Q) and an FRT site flanked neomycin resistance gene cassette and a loxP site were inserted upstream and second loxP site downstream. The mutation is associated with orofacial clefts (OFCs) in humans. The neo cassette was removed through subsequent flp-mediated recombination and the entire single-exon gene deleted through cre-mediated recombination. (J:311539)
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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
C57BL/6N
Targeted
Insertion, Intragenic deletion
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1
5
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
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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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