Using an sgRNA and an ssODN template with CRISPR/Cas9 technology, glycine codon 330 (GGC) in exon 6 was changed to arginine (AGG) (c.988_990delGGCinsAGG, p.G330R). This mimics the human p.G330R mutation associated with progressive sensorineural hearing loss and retinitis pigmentosa (RP). (J:323825)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count