在第7外显子插入了新霉素筛选 cassette。通过Northern blot和RT-PCR分析总骨 RNA,确定了这个等位基因无转录本产生。对纯合突变骨的蛋白质提取物进行 Western blot 检测,结果显示缺乏或编码蛋白。(来源:J:50934)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count