Table 1.

Summary of existing mouse models of PMS

StrategyTargetedexonsDomainsExpressed isoformsOriginal publicationOther publicationsSynonymsProviderRepositoryCatalog
1DeletionUbiquitous CMV-Cre/loxP-mediated excisionExons 4-9Ankyrin+++++Bozdagi et al. (2010)Yang et al. (2012);
Bozdagi et al. (2013);
Drapeau et al. (2014)
Shank3Δ ex4-9; B6(Cg)-Shank3tm1.2Bux/JJoseph D. BuxbaumJAX#017890
2DeletionHomologous recombination (replacement of exon 4-9 by NEO cassette)Exons 4-9Ankyrin+++++Wang et al. (2011)Bariselli et al. (2017)Shank3e4-9; B6.129S7-Shank3tm1Yhj/JYong-Hui JiangJAX#017442
3DeletionUbiquitous MV-Cre/loxP-mediated excisionExons 4-9Ankyrin+++++Jaramillo et al. (2016)Craig M. PowellNANA
4DeletionHomologous recombination (replacement of exon 4-7 by NEO cassette)Exons 4-7Last three ankyrin repeats+++++Peça et al. (2011)Shank3AGuoping FengNANA
5DeletionUbiquitous MV-Cre/loxP-mediated excisionExon 9Last ankyrin repeat+++++ Lee et al. (2015)Shank3 (Δ9)Eunjoon KimNANA
6DeletionHomologous recombination (introduction of stop codon in exon 11)Exon 11SH3+++++++ Schmeisser et al. (2012) Vicidomini et al. (2017);
Reim et al. (2017)
Shank3αβ, Shank3Δ11Tobias M. BoeckersNANA
7stop codonInsertion of Neo-Stop cassette in intron 12Exon 13PDZ+++++ Jaramillo et al. (2017)Shank3E13Craig M. PowellNANA
8DeletionHomologous recombination (replacement of exon 13-16 by NEO cassette)Exons 13-16PDZ++++ Peça et al. (2011) Luo et al. (2017);
Copping et al. (2017)
Shank3B; B6.129-Shank3tm2Gfng/JGuoping FengJAX#017688
9inducible DeletionHomologous recombination (inversion of exons 13-16 and flanking with FLEx cassette) + crossing with CAGGS-CreER mice for tamoxifen rescueExons 13-16PDZ−(+)−(+)−(+)−(+)+−(+)−(+)+++ Mei et al. (2016)Shank3fx/fx and Shank3fx/fx:CAGGS-CreER; STOCK Shank3tm5.1Gfng/J; B6.129(Cg)-Shank3tm5.1Gfng/JGuoping FengJAX#028800
10DeletionUbiquitous CMV-Cre/loxP mediated excisionExon 21PRO++++Bangash et al. (2011) (retracted)Cope et al. (2016)Shank3ΔC (Shank3Δ ex21); B6.129S6(Cg)-Shank3tm1.1Pfw/J; B6.Cg-Shank3tm1.1Pfw/J; STOCK Shank3tm1.1Pfw/JPaul WorleyJAX#018398
11DeletionUbiquitous CMV-Cre/loxP-mediated excisionExon 21PRO++++ Kouser et al. (2013) Kloth et al. (2015);
Duffney et al. (2015);
Bidinosti et al. (2016);
Li et al. (2017)
Shank3ΔC/ΔCCraig M. PowellNANA
12inducible point insertionInsertion of a floxed mutated exon 21 followed by a transcriptional stop (Neo-stop) cassette + crossing with B6.Cg-Tg(CAG-cre/Esr1*)5Amc/J for tamoxifen rescueExon 21PRO++++ Speed et al. (2015)Shank3G/G and Reversible-Shank3GCre+Craig M. PowellNANA
13point insertionHomologous recombination (G insertion at position 3680 causing a frameshift and premature stop codon)Exon 21PRO−(+)−(+)+++−(+)−(+)−(+)+−(+) Zhou et al. (2016)Shank3*G3680 knock-in; STOCK Shank3tm3.1Gfng/JGuoping FengJAX#028778
14point mutationHomologous recombination (R1117X nonsense mutation)Exon 21PRO++++ Zhou et al. (2016)Shank3*R1117X knock-in; STOCK Shank3tm4.1Gfng/JGuoping FengJAX#028779
15DeletionUbiquitous CMV-Cre/loxP-mediated excisionExons 4-22ANK, SH3, PDZ, PRO, SAMWang et al. (2016)Han et al. (2016)Shank3Δe4–22Yong-Hui JiangNANA
16over-expressionEGFP–Shank3 BAC transgenic miceFull gene++++++++++++++++++++Han et al. (2013)Tg(Shank3-EGFP)1Hzo; B6.FVB-Tg(Shank3-EGFP)1Hzo/JHuda Y ZoghbiJAX#024033
  • 1-5: targeted deletions in the ankyrin repeat domain. Δ4-7: deletion of exons 4 to 7; Δ4-9: deletion of exons 4 to 9; Δ9: deletion of exon 9. 6: targeted deletion in the SH3 (Src Homology 3) domain. Δ11: deletion of exon 11. 7-9: targeted deletions in the PDZ (PSD95/Discs large/zona-occludens-1) domain. Δ13: deletion of exon 13; Δ13-16: deletion of exon 13 to 16). 10-14: targeted deletions of point mutations in the proline-rich domain. Δ21: deletion of exon 21. 15: deletion of all functional domains. Δ4-22: deletions of exons 4 to 22. 16: overexpression of the full Shank3 gene.