The mutation is an A to T transversion at position 25,262,891 of the C57BL/6J mouse genomic DNA sequence for Chr 12 (NCBI Genbank Build 37.1), within exon 3 (exons 1-3 are not included in the Genbank annotation of the genomic DNA sequence of Grhl1, region NC_000078). Normally, two isoforms of the protein are expressed due to alternative mRNA splicing. The mutation in this allele corresponds to nucleotide 366 of the mRNA sequence for isoform 1; it converts the triplet encoding arginine at codon 72 to a termination codon (R72Ter). As the mutation is in exon 3, which is absent from isoform 2, it is predicted not to affect isoform 2. (J:157821)
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模型ID
品系来源
等位基因类型
突变
遗传方式
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C57BL/6J
Chemically induced
Single point
Not Specified
1
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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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