ENU-induced G to C transversion at base pair 111,319,716 (v38) on chromosome 8, or base pair 18,741 in the GenBank genomic region NC_000074. The mutation is within the splice donor site of intron 6, one base pair away from exon 6 (out of 11 total exons). The effect of the mutation on the mRNA sequence and mutant protein expression is unknown. In the event of exon 6 skipping, the aberrant transcript would have a deletion of the 136 base pair exon 6 (corresponding to amino acids 263-308), a frame-shift, and coding of 29 aberrant amino acids followed by a premature stop codon (within exon 8) after amino acid 291. (J:234251)
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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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