3号和4号外显子的片段(从795到1049个碱基)被PGK-neo cassette的插入所删除。对来自肺组织的RNA进行Northern blot分析显示,纯合突变小鼠中没有转录本。编码蛋白的缺失通过肺匀浆的Western blot分析和肺泡II型细胞的免疫组化染色得到了确认。(来源:J:35250)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count