Shank3^tm1.1Cya

A CAG to CGG change in the ankyrin repeat region resulting in a glutamine to arginine mutation at amino acid 321 (Q321R) was introduced into exon 8. In addition, a floxed neomycin resistance gene was inserted upstream of exon 4 and was removed via cre-mediated recombination. Immunoblot analysis shows that that levels of Shank3a, the longest variant, are decreased by about 18% in homozygous brains. Heterozygotes show normal protein levels. This mutation was identified in a human individual with autism spectrum disorder. (J:281328)