A guide RNA is designed to introduce 4 nucleotide frameshift mutation in exon 30 resulting in a premature stop codon. Antibodies designed to detect N-terminal epitopes did not detect protein in whole brain lysate. (J:296848)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count