This allele from project Dusp22-8513J-1842M was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences ATCCTGCTCCTAAGTGCAGG, CATGTTTGCCAAGGCCGTGA, CACTCAAACCCCAAGTCACA and CCCTGGCAATACCTTTTTGA, which resulted in a 490 bp deletion beginning at Chromosome 13 positive strand position 30,668,607 bp, GCAGGGGGTTGAAAGATTAC, and ending after TACCCTGGCAATACCTTTTT at 30,669,096 bp (GRCm38/mm10). This mutation deletes exon 2 and 456 bp of flanking intronic sequence including the splice acceptor and donor. In addition 71 bp upstream of the 490 bp deletion there is a deletion of 78 bp (Chr:13 30,668,458 bp - 30,668,535 bp) of intronic sequence that was replaced with 73 bp, the majority of which derived from the opposite strand of the excised sequence that reinserted in reverse orientation and should not alter the effect of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 7 and early truncation 7 amino acids later. (J:188991)
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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/6NJ
Endonuclease-mediated
Intragenic deletion, Inversion
Not Specified
1
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表型特征

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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