CRISPR/Cas9 mutagenesis induced an 8-bp deletion in exon 18. This resulted in a frame-shift mutation leading to nonsense-mediated decay. Western blot analysis of brain homogenates demonstrated the absence of protein expression in the hippocampi of homozygous mutant mice. (J:265782)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count