A 42 bp insertion encoding a 14 amino acid BAP tag was inserted into the fourth exon 17 amino acids upstream of the C terminus. In addition a floxed neo resistance cassette was inserted and then removed by Cre mediated recombination leaving a loxP site in the third intron. Repressor activity of the resulting tagged protein is impaired making this a hypomorphic allele. Protein expression is increased compared to wild-type controls. (J:155378)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count