The floxed selection cassette that replaced a fragment encompassing 137 bp of exon 4, intron 4, and all of exon 5 was excised from Canxtm1Den by in vivo cre mediated recombination in the germline. Expression analysis identified a truncated protein, lacking residues encoded by exons 4, 5, and 6. The deleted region included cysteine residues 161 and 195 which form a disulfide bond, and tyrosine 165 and lysine 167 which are both involved with the glucose binding pocket. The deletion reportedly did not directly affect the ER targeting region, allowing for the possiblity for the truncated protein to localize to the ER. (J:79604)
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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
129P2/OlaHsd
Targeted
Intragenic deletion
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1
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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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