A stop codon was introduced into the 13th exon as a result of a neo insertion. The final 49 amino acids of the long isoform should not be translated without altering expression of the short isoform. The putative protein of the long isoform is four amino acids shorter than the wild-type short isoform. Western blot revealed lack of protein of the wild-type long isoform in mutants. Protein of the short isoform was present, however at ~50% of wild-type levels. Northern blot revealed double bands in mutant mice, suggesting that the polyA site of the neo is being used to prematurely truncate the transcript, resulting in two bands with different 3' ends. (J:46770)
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等位基因类型
突变
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129P2/OlaHsd
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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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