Tyrosine codon 443 (TAT) was changed to asparagine (AAT) (c.1327T>A p.Y443N) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.Tyr444Asn associated with multiple synostoses syndromes (SYNS). (J:335484)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count