A restriction fragment encompassing a 3' portion of exon 12 and all of exon 13 was replaced with a neomycin selection cassette inserted by homologous recombination. In addition to disrupting the downstream reading frame, the neo cassette replaces sequence around the junction of exon 13 and 14, which encodes the active site of the first catalytic domain. Protein containing an intact first catalytic domain was undetected by Western blot analysis of homozygous mutant brain lysates. (J:55045)
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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
129X1/SvJ
Targeted
Insertion, Intragenic deletion
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1
1
9

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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