在exon 11的359位甘氨酸(GAA)被替换为赖氨酸(AAA),即p.E359K,同时在exon 13的3' UTR插入了含loxP序列的诺卡因抗性基因座。随后通过Cre介导的重组移除了这个neo cassette。这种变异对编码肽的稳定性产生了负面影响。(来源:J:304821)
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