ENU-induced T to A transversion at base pair 102,264,944 (v38) on chromosome 12, or base pair 136,294 in the GenBank genomic region NC_000078 within the donor splice site of intron 16 in the cDNA transcript ENSMUST00000079020.10 (corresponding to the mRNA sequence NM_172152). The effect of the mutation at the cDNA and protein level have not examined, but if the mutation affects this transcript it is predicted to result in skipping of the 66-nucleotide exon 16 (out of 17 total exons), resulting in an in-frame deletion of amino acids 534 to 555; the rest of the protein product is unchanged. (J:265124)
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突变
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C57BL/6J
Chemically induced
Single point
Recessive
1
5
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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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