ENU mutagenesis induced a G to A transition in intron 3 that results in an in-frame 27 nucleotide insertion encoding 9 additional neutral amino acids. Western blot anlaysis confirmed reduced protein expression in E10.5 embryos. (J:223082)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count