6-8号外显子经Cre介导的剪切后被去除,该序列编码了TGase的催化核心区域。Northern blot和RT-PCR的实验都证实了突变心脏中没有转录本。在突变肝细胞膜和心脏细胞质中,通过 Western blot 实验检测到了蛋白质缺失。(来源:J:95130)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count