从第7到第9个外显子被替换为在第6个外显子下游的Pseudogene-neo基因。通过Northern分析,来自纯合小鼠肝脏、肾脏和附睾的总RNA提取物中未检测到转录本。蛋白质表达的缺失通过 Western blot 分析得到了确认。(来源:55555)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count