C9orf72^em5Lutzy

The locus is targeted by two zinc finger nucleases (ZFNs) at the TGTTGC sequence located immediately downstream of the exon 2 ATG (GRCm38:4:35,218,827) resulting in a 79 bp deletion in exon 2 (38 bp upstream of the start codon and 38 bp downstream), which maps to mm10/GRCm38:4:35,218,896-35,218,822. Western blot of brain lysates shows homozygous null mice have complete loss of full-length protein, however, mRNA expression levels from the mutant allele are similar to wild type. (J:101977)