Primary Identifier | MGI:5788281 | Allele Type | Targeted |
Attribute String | Modified isoform(s) | Gene | Shank3 |
Transmission | Germline | Strain of Origin | 129S6/SvEvTac |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The targeting construct introduced upstream of exon 21 a lox P site, modified exon 21 containing an inserted G bp and a neomycin resistance and STOP cassette with a 3' loxP site. The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight isoforms at the synapse. This insertion is present in patients with autism. Cre-mediated recombination is required to remove the modified exon and selection/STOP cassette. |