This mutation has been identified as a deletion within Dock7 that spans exons 22-28 of the gene's 48 exons, with endpoints in introns 22 and 29. Splicing of exon 21 directly to exon 29 yields an mRNA with a 922 bp deletion encompassing nucleotides 2597-3518 (numbering from the A of the translation initiation codon) and shifts the reading frame after codon 865 so that 30 incorrect amino acids are incorporated into the protein before its premature termination. Although the mutation was discovered among the G3 progeny of an ENU mutagenized male mouse, large deletions are not characteristically induced by ENU, and it is presumed to have occurred spontaneously. (J:146458)
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模型ID
品系来源
等位基因类型
突变
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参考文献
C57BL/6J
Spontaneous
Intragenic deletion
Recessive
1
2
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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