Shank3^tm3.1Gfng

The allele was designed to alter exon 21 by inserting a single guanine nucleotide at cDNA position 3680; causing a frameshift and downstream stop codon. A loxP-flanked PGK-neo-pA cassette was also inserted downstream of the mutant stop codon. Cre-mediated recombination removed the floxed neo cassette. The mutation was first identified in two brothers diagnosed with autism spectrum disorder (ASD) accompanied by severe mental retardation. Antibodies to both the N and C terminus do not detect protein in striatal tissue. (J:230887)