This mutation was discovered by its visible phenotype in progeny of a mutagenized male mouse. Sequence analysis of all the genes in the keratin gene cluster revealed an A to T transversion at nucleotide position 547 of the keratin 10 gene, in the first of the gene's eight exons, that results in replacement of a highly conserved glutamic acid by valine at amino acid position 172 of the keratin protein (E172V), in the first linker domain. (J:147340)
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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
Dominant
1
8
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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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