2-3外显子和部分4外显子(编码外周区域及3个潜在的糖胺聚糖附着位点)通过同源重组被新生成的 cassette 替换。通过Northern blot和 Western blot对纯合突变动物的肾脏RNA和纤维细胞裂解物进行分析,确认了基因表达的缺失。(引用自J:60596)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count