这个基因通过同源重组,在arginine和lysine丰富的域上游的exon 1位置插入了PGK-neo cassette,导致其功能受损。通过对纯合突变小鼠睾丸的Northern和Western印迹实验,确认了该基因没有表达(来源:J:76986)。
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