这个基因通过同源重组,用PGK-neo cassette替换了exon 3,导致27-441位的氨基酸缺失。对纯合子动物的胫骨RNA进行Northern blot分析未检测到转录本。对纯合突变小鼠胫骨组织的免疫组化结果显示,基因产物不存在。(来源:J:81218)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count