intron 4 和 exon 5 的部分被 neo cassette 替换,Southern blot 验证了重组。杂合体中 mRNA 减少了 50-70%,而纯合子中未检测到 mRNA,Northern blot 分析证实。 Western blot 显示了突变组织样本中无蛋白存在。(来源:J:91752)
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