一个新霉素抗性基因座替换了包含基因exon 1到exon 2全部序列的1.86kb DNA。九个组织的Northern blot分析显示纯合突变体中未检测到可识别的mRNA表达。针对突变小鼠的支气管肺泡灌洗液,ELISA检测到了没有蛋白质。(来源:J:98708, J:102034)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count