Plasmids encoding guide RNA (ATG GCT GGG GCT CGG CGC GGC TGG CGG CTG TCG) were designed to introduce guanine to thymine point mutation in exon 1. The resulting exon 1 harbors an alanine to serine mutation at amino acid position 11 (A11S). There are no known off-target sites present. The A11S mutation in orthologous to the human A9S mutation found in Christianson syndrome patients. (J:284697)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count