This allele was generated at The Centre for Phenogenomics by injecting Cas9 mRNA with a guide RNA with the spacer sequence AGCATCTGACACTGAGTAAGand a single-strand oligonucleotide encoding the changes c.1376_1377CA>TC (p.S459F) and a silent mutation c.1368C>T (p.A456) to disrupt the protospacer adjacent motif (PAM) sequence. (J:339146)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count