CRISPR/cas9 endonuclease-mediated genome editing is used to delete a single base at c.2438 (T) creating a frameshift mutation, L813Rfsx22, in exon 15. The deletion was confirmed by sequencing and Southern blot. (J:341855)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count