ENU诱变在cDNA(ENSMUST00000045153)的第847位由A变为G的点突变,导致第105位的丝氨酸被替换为异亮氨酸(原文:ENU mutagenesis introduced a G to A point mutation at position 847 on cDNA, resulting in a serine to alanine substitution at position 105 (J:104190))。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count