This allele from project Reps2-8146J-M5750 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences TCTTTAGCAAGGTTATAGTG, TAGGATTAGATCCTTTCAGC, GTTTTTCCTGTTATGAAATG and AAAATAAAGATGACAAACGC, which resulted in a 616 bp deletion beginning at Chromosome X negative strand position 162,565,597 bp, TTCAAAAGAGGAGGAATAAT, and ending after TCAGCTGGCAGTTAAGGTAG at 162,564,982 bp (GRCm38/mm10). This mutation deletes exon 2 and 492 bp of flanking intronic sequence including the splice acceptor and donor. In addition there is a 2bp insertion (AT) before the deletion and a 20 bp deletion (TATTCTTTAGCAAGGTTATA) after the 616 bp deletion that will not alter the results of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 78 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
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相关基因
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参考文献
C57BL/6NJ
Endonuclease-mediated
Intragenic deletion
Not Specified
1
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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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