A arginine-to tryptophan mutation was introduced into the codon encoding the 258 amino acid (R258W). This corresponded to the R260W mutation in the human NLRP3 gene associated with the autoinflammatory condition known as Muckle-Wells syndrome. The CGA codon in the third exon of the locus was changed to TGG by homologous recombination. A FRT-flanked neomycin cassette and a loxP site were included upstream of exon 3 with an additional loxP site included downstream of the exon. Immunoblotting and quantitative RT-PCR of macrophages demonstrated mutant gene expression is similar to endogenous levels. Expression of cre recombinase was predicted to create a null allele by excising exon 3 and causing frameshift mutation. (J:150053)
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模型ID
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等位基因类型
突变
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C57BL/6
Targeted
Insertion, Nucleotide substitutions
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1
7
10

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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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(#): 上标括号内为相关疾病数量
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