PCR amplification and sequencing of cDNA and genomic DNA products from mutants revealed a T to A transversion in the splice donor site immediately following exon 17 that causes the deletion of that exon in all alternatively spliced forms of the mRNA. For each transcript isoform detected, the absence of exon 17 from the mRNA creates a frameshift in the ORF 3' of the missing exon, thereby allowing the incorporation of a few aberrant codons and a premature stop codon. The largest aberrant mRNA isoform is predicted to encode a protein that is truncated at residue 559. (J:84426)
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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
BALB/cRl
Chemically induced
Single point
Recessive
1
2
4

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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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