在位置1828的A到C核苷酸替换导致了第610位氨基酸由Leucine替换为Methionine(M610L)。随后插入了位于第6外显子下游的frt-flankedneo cassette,该元件通过后续的germ线Flp介导的重组被去除了。(来源:J:147914)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count