CRISPR-Cas9 technology was used to introduce a one-nucleotide duplication in exon 4, inducing a translational frameshift expected to lead to the complete absence of encoded protein or the production of a truncated protein. RT-PCR analysis of testis mRNA revealed that the level of mRNA amplification was significantly reduced in homozygous mutant mice. Sanger sequencing of mRNA confirmed the production of abnormal transcripts with a premature stop codon 12 nucleotides after the first modified codon at position 135. (J:279937)
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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
Not Specified
Endonuclease-mediated
Insertion
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1
3
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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