This mutation was discovered in an ENU mutagenesis screen for mutations that do not interfere with the initial antibody response to an immunogen, but prevent its maturation and persistence. The mutation comprises a T to C transition that replaces an absolutely conserved serine at amino acid position 1827, in the DOCK-homology region 2 (DHR2) domain of the protein, with proline (S1827P). DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. The S1827P substitution is predicted to disrupt the structure of DHR2 lobe B alpha-helix 6 and thus to interfere with its GTP --> GDP exchange function. (J:155516)
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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
C57BL/6JAnu
Chemically induced
Single point
Recessive
1
4
8

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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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