Zinc finger targeted endonuclease technology generated a 20 bp deletion at the N-terminus that included the original start codon. mRNA expression level is normal but a truncated protein that lacked the first 16 amino acids residues was produced. (J:211781)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count