This mutation, discovered because of its visible phenotype in two male G3 progeny of an ENU mutagenized male mouse, has been identified as a T-to-A transversion at nucleotide position 1307 of the gene (Genbank Accession NM_054039), in the twelfth of the gene's 13 exons. It is predicted to result in replacement of isoleucine by asparagine at amino acid position 350 of the protein (p.I350N); the protein's expression in mutant mice has not been analyzed. (J:141212)
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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
4
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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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