将含有人类cDNA的floxed HA标签,带有在第361位由酪氨酸替换为histidine(H361Y)的核苷酸变异,以及GFP和frt介导的neo cassette插入到第4外显子,该外显子包含起始翻译位点。通过Flp介导的重组移除了neo cassette。蛋白表达缺失通过在E12.5胚胎提取物中进行Western blot分析得到了确认。(来源:J:159219)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count