Insyn1^em1Ssod

The molecular lesion is an 11-bp missense deletion in exon 2 causing an out-of-frame mutation following 34 amino-acids and a premature stop codon in a highly conserved region of the gene. Homology-Independent Targeted Integration (HITI) labeling revealed loss of puncta staining in hippocampal neurons from homozygous mutant mice, thus confirming absence of protein expression. (J:284536)