This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences GCTTGGGAAACCACAAAGAC, AGACATGCACGCAGTCTAAT, GCAGCCAGTAACTTCTGCCA and TGCTTCCCAAATCCAGGTGA, which resulted in a 377 bp deletion retention of 3 bp (CAA)of endogenous sequence and further deletion of 26 bp, beginning at Chromosome 6 negative strand position 83,496,866 bp and ending after 83,496,461 bp (GRCm38/mm10). This mutation deletes ENSMUSE00001273030 (exon 2) and 290 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 47 and early truncation 55 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
Not Specified
1
3
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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
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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