ENU-induced T to C transition at base pair 54,939,596 (v38) on chromosome 11, or base pair 23,345 in the GenBank genomic region NC_000077 within the donor splice site of intron 3. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 138-base pair exon 3. Skipping of exon 3 would result in an in-frame deletion of 46 amino acids beginning after amino acid 46 of the protein, which is normally 647 amino acids long. (J:265175)
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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
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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