Germ line, cre mediated recombination was used to remove exon 1, which contains the start methionine codon and encodes the PAPs binding domain. RT-PCR confirmed weak expression of the truncated transcript that encodes a protein expected to have little enzymatic activity. (J:135241)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count