CRISPR/cas9 genome editing was originally designed to introduce a S577R point mutation (AGC to AGA) and a silent mutation. DNA sequencing of the targeted region identified a founder instead harboring an 8 nucleotide deletion (indel mutation) after the sequence encoding amino acid 578. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count