This CRISPR/cas9-mediated insertion of a single T into the open reading frame at position 295, which causes a frameshift changing amino acids 100-105 and a premature stop codon in place of the aspartic acid at amino acid 106, yields no full length protein by western blot analysis on brain lysates from 10-day-old homozygotes. (J:296528)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count