1a和1b外显子被替换成新霉素抗性基因座。删除区域包含了5'非编码区、起始密码子以及编码氨基酸端残基和SH2和SH3结构的序列。北半球杂合突变小鼠的Northern blot分析未检测到转录本, Western blot证实了蛋白缺失。(来源:J:77207)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count