ENU-induced T to A transversion at base pair 78,446,657 (v38) on chromosome 15, or base pair in the GenBank genomic region NC_000081. The mutation is within intron 11, 6-base pairs from the previous exon (exon 11 out of 18 total exons). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the loss of the splice donor site in intron 11 with a concomitant use of a cryptic splice site in intron 11, leading to a 16-base pair insertion. The insertion would result in an in-frame protein product after amino acid 456 of the protein, followed by termination after the inclusion of 811 aberrant amino acids. (J:234243)
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模型ID
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等位基因类型
突变
遗传方式
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C57BL/6J
Chemically induced
Single point
Recessive
1
2
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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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