The three coding exons downstream of the translation initiation site was replaced with Cre recombinase cDNA. The remaining gene will lack critical amino acids including the codon that encodes the essential catalytic triad residue His75. Absence of wild type protein was confirmed by immunoblot. (J:124554)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count