CRISPR/Cas9 technology generated a 1 bp insertion (G) at nucleotide 298 resulting in a frameshift mutation. Detailed molecular characterization confirmed this is a null allele. (J:271089)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count