ENU-induced G to T transversion at base pair 22,575,196 (v38) on chromosome 9, or base pair 99,660 in the GenBank genomic region NC_000075 within the splice donor site of intron 8. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic splice site in exon 8. The resulting transcript would have a 78-base pair deletion in exon 8. The deletion would cause an in-frame deletion of 26 amino acids beginning after amino acid 209 of the protein, which is normally 880 amino acids long. (J:265189)
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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
6
--

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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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