Germline, cre mediated recombination was used to remove the beta-geo cassette leaving exons 10 through 13 floxed. Subsequent molecular analysis revealed that two adenine-to-guanine point mutations were inadvertently introduced into the tower domain during the gene targeting process. These resulted in the predicted amino acid changes E413G and M448V in the encoded protein. These residues have been implicated in protein-protein interactions with other regulatory proteins. Microarray and qRT-PCR analysis demonstrated that mRNA levels were decreased by ~50% in E18.5 homozygous hearts, indicating a hypomorphic allele. (J:144527, J:270116)
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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
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Not Specified
Targeted
Insertion, Nucleotide substitutions
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1
2

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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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