The DNA binding domain of the E47 isoform was disrupted by the introduction of two arginine to glycine missense mutations generated by site directed mutagenesis. While this mutation putatively disrupts DNA binding it was not expected to affect homodimerization of the E47 isoform. Semiquantitative RT-PCR analysis showed a 40% reduction of transcript produced from the targeted locus. The mutation was shown to affect splicing as the E47/E12 transcript ratio was determined to be increased by approximately 80% in homozygous mutant mice. (J:47671)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count