ENU mutagenesis induced an A-to-G transition at base pair 129,555,640 (GRCm38) on chromosome 4, equivalent to base pair 18,002 in the GenBank genomic region NC_000070 encoding Lck. The mutation corresponds to residue 953 in the NM_001162432 mRNA sequence in exon 9 of 13 total exons, or at position 995 bp of the NM_001162433 mRNA sequence in exon 9 of 13 total exons, or at position 1,050 of the NM_010693 mRNA sequence in exon 8 of 12 total exons. The mutation results in a glutamic acid to glycine substitution at position 299 (p.E299G) in the Lck protein isoform encoded by NM_001162432 and a glutamic acid to glycine substitution at position 288 (p.E288G) in the Lck protein isoforms encoded by NM_001162433 and NM_010693. The effect of the mutation on kinase activity, expression level, or localization has not been tested. (J:203759)
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C57BL/6J
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hm: 纯合子
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