CRISPR-targeting removed 89 bp spanning exon 15 and intron 16 that removes the critical catalytic residues (NPPF) from the methyltransferase domain and creates a premature termination codon. Western blot analysis confirmed the absence of protein expression in several tissues. (J:293136)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count