CRISPR/cas9 genome editing used guide RNAs (AGCCTTTGAGGCCAAACTAC, CAAACTACAGGAAATTGAAA and TATTCGTTCATGATCTTGAA) originally designed to introduce an H871Q mutation. DNA sequencing of the targeted region identified a 43 bp deletion (indel mutation) in exon 2. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count