Histidine codons 292 and 295 were targeted for mutation to arginine codons with an oligonucleotide donor sequence and an sgRNA using CRISPR/Cas9. This resulted in p.His292Arg and p.His295Arg mutations (plus a silent mutation) in this allele. The mutations in the RING domain lead to transactivation of Wnt signalling. (J:276360)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count