CRISPR/Cas9 genome editing was used to generate a 127 bp deletion in exon 3 that results in a frame shift and subsequent introduction of a stop codon 32 condons downstream. qPCR confirmed complete deletion of the mRNA. (J:270873)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count