人类的BAC(RP11-33A21)被改造,加入了在JPH3的exon 2A区域扩展的120个CTG/CAG重复序列。这条线只整合了一个转录基因,含有116个CTG/CAG重复。RT-PCR结果显示,转录基因的过表达水平大约是内源基因的100%。(来源:J:174267)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count