CRISPR-targeting produced a point mutation (C to G) that produces the amino acid substitution of serine with argenine at position 14 (S14R). A silent mutation (C to T) created an Aat I restriction site to facilitate genotyping. (J:291454)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count