This mutation, whose phenotype was first observed among G3 progeny of an ENU-mutagenized male mouse, has been identified as a T to C transition at nucleotide 503 of this gene, in the third of its 9 exons. This substitution is predicted to result in replacement of leucine by proline at amino acid position 168 of the standard form of the protein, which corresponds to amino acid position 443 of the long protein isoform, in the second transmembrane helix. Expression has not been analyzed. (J:137501)
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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/6J
Chemically induced
Single point
Recessive
1
3
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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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