The Mocs2B subunit mutation, a 2 bp deletion of AA at position 726 and 727 (c.726_727delAA) was introduced via homologous recombination. The deletion of the two nucleotides is predicted to result in the replacement of the last nine amino acids by seven de novo amino acids in the mouse. In the human, the same deletion results in the addition of 30 de novo amino acids. To resemble the pathological state in humans, the last 27 coding nucleotides in the mouse sequence was replaced by the human sequence coding for the 30 de novo amino acid as expected for the c.726_727delAA mutation. A loxP-flanked neomycin cassette was inserted upstream of exon 8. (J:336726)
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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
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C57BL/6
Targeted
Insertion, Intragenic deletion
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1
2
1

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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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