在第五外显子插入PGK-抗氨苄青霉素抗性 cassette导致了基因的突变。使用鼠cDNA探针的northern分析未在纯合突变小鼠的肝脏中检测到野生型mRNA。 Western blot分析和简单的放射免疫扩散试验也未在纯合突变小鼠的血清中检测到蛋白质。(来源:J:52225)
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