Three highly conserved DNA-binding residues encoded in exon 6 (Arg-Glu-Arg at positions 195-197) were mutated to alanine residues. A floxed neo cassette was also inserted upstream of exon 6. Transient expression of Cre recombinase excised the neo cassette leaving behind a loxP site. The mutant protein was expressed at endogenous levels in the fetal liver, was localized to cellular nuclei, but lacked the ability to bind DNA. (J:139179)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count