The CRISPR/Cas9 base editor BE4Max was used to convert the glutamine codon at position 192 to a stop codon (Q192X, CAG to TAG), resulting in an early termination allele predicted to be a null. (J:332675)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count