ENU-induced A to G transition at base pair 55,931,432 (v38) on chromosome 19, or base pair 189,648 in the GenBank genomic region NC_000085 within the acceptor splice site of intron 14. The effects of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in use of a cryptic site in intron 13. Use of the cryptic splice site would result in a transcript with a 24-base pair insertion of intron 13. The insertion would cause a frame-shifted protein product beginning after amino acid 422 of the protein, and subsequent termination after the inclusion of 148 aberrant amino acids. (J:267536)
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模型ID
品系来源
等位基因类型
突变
遗传方式
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相关疾病
参考文献
C57BL/6J
Chemically induced
Single point
Recessive
1
3
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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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