ENU-induced T to C transition at base pair 164,099,827 (v38) on chromosome 2, or base pair 25,715 in the GenBank genomic region NC_000068 within the donor splice site of intron 8. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of cryptic splice site within intron 8. The resulting transcript would have a 62-base pair insertion of intron 8, which would cause a frame shifted protein beginning after amino acid 319 of the protein. The protein would terminate after the inclusion of 43 aberrant amino acids. (J:265233)
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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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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
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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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