| Primary Identifier | MGI:6379002 | Allele Type | Targeted |
| Gene | Shank3 | Transmission | Germline |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
