ENU mutagenesis induced a C to A transversion in exon 1 that results in the amino acid substitution of glutamic acid for alanine at position 12 (A13E). The absence of protein expression was confirmed by western blot analysis on E9.5 extracts. (J:160012)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count