Table 1.
Summary of existing mouse models of PMS
| Strategy | Targetedexons | Domains | Expressed isoforms | Original publication | Other publications | Synonyms | Provider | Repository | Catalog | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a | a(e10-12s) | b | b(e10-12s) | a/b(e11-12s) | c | d | e | e-1 | f | |||||||||||
| 1 | Deletion | Ubiquitous CMV-Cre/loxP-mediated excision | Exons 4-9 | Ankyrin | − | − | − | − | − | + | + | + | + | + | Bozdagi et al. (2010) |
Yang et al. (2012); Bozdagi et al. (2013); Drapeau et al. (2014) |
Shank3Δ ex4-9; B6(Cg)-Shank3tm1.2Bux/J | Joseph D. Buxbaum | JAX | #017890 |
| 2 | Deletion | Homologous recombination (replacement of exon 4-9 by NEO cassette) | Exons 4-9 | Ankyrin | − | − | − | − | − | + | + | + | + | + | Wang et al. (2011) | Bariselli et al. (2017) | Shank3e4-9; B6.129S7-Shank3tm1Yhj/J | Yong-Hui Jiang | JAX | #017442 |
| 3 | Deletion | Ubiquitous MV-Cre/loxP-mediated excision | Exons 4-9 | Ankyrin | − | − | − | − | − | + | + | + | + | + | Jaramillo et al. (2016) | Craig M. Powell | NA | NA | ||
| 4 | Deletion | Homologous recombination (replacement of exon 4-7 by NEO cassette) | Exons 4-7 | Last three ankyrin repeats | − | − | − | − | − | + | + | + | + | + | Peça et al. (2011) | Shank3A | Guoping Feng | NA | NA | |
| 5 | Deletion | Ubiquitous MV-Cre/loxP-mediated excision | Exon 9 | Last ankyrin repeat | − | − | − | − | − | + | + | + | + | + | Lee et al. (2015) | Shank3 (Δ9) | Eunjoon Kim | NA | NA | |
| 6 | Deletion | Homologous recombination (introduction of stop codon in exon 11) | Exon 11 | SH3 | − | + | − | + | + | − | + | + | + | + | Schmeisser et al. (2012) |
Vicidomini et al. (2017); Reim et al. (2017) |
Shank3αβ, Shank3Δ11 | Tobias M. Boeckers | NA | NA |
| 7 | stop codon | Insertion of Neo-Stop cassette in intron 12 | Exon 13 | PDZ | − | − | − | − | + | + | − | + | + | + | Jaramillo et al. (2017) | Shank3E13 | Craig M. Powell | NA | NA | |
| 8 | Deletion | Homologous recombination (replacement of exon 13-16 by NEO cassette) | Exons 13-16 | PDZ | − | − | − | − | + | − | − | + | + | + | Peça et al. (2011) |
Luo et al. (2017); Copping et al. (2017) |
Shank3B; B6.129-Shank3tm2Gfng/J | Guoping Feng | JAX | #017688 |
| 9 | inducible Deletion | Homologous recombination (inversion of exons 13-16 and flanking with FLEx cassette) + crossing with CAGGS-CreER mice for tamoxifen rescue | Exons 13-16 | PDZ | −(+) | −(+) | −(+) | −(+) | + | −(+) | −(+) | + | + | + | Mei et al. (2016) | Shank3fx/fx and Shank3fx/fx:CAGGS-CreER; STOCK Shank3tm5.1Gfng/J; B6.129(Cg)-Shank3tm5.1Gfng/J | Guoping Feng | JAX | #028800 | |
| 10 | Deletion | Ubiquitous CMV-Cre/loxP mediated excision | Exon 21 | PRO | − | − | + | + | + | − | − | − | + | − | 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/J | Paul Worley | JAX | #018398 |
| 11 | Deletion | Ubiquitous CMV-Cre/loxP-mediated excision | Exon 21 | PRO | − | − | + | + | + | − | − | − | + | − | Kouser et al. (2013) |
Kloth et al. (2015); Duffney et al. (2015); Bidinosti et al. (2016); Li et al. (2017) |
Shank3ΔC/ΔC | Craig M. Powell | NA | NA |
| 12 | inducible point insertion | Insertion 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 rescue | Exon 21 | PRO | − | − | + | + | + | − | − | − | + | − | Speed et al. (2015) | Shank3G/G and Reversible-Shank3GCre+ | Craig M. Powell | NA | NA | |
| 13 | point insertion | Homologous recombination (G insertion at position 3680 causing a frameshift and premature stop codon) | Exon 21 | PRO | −(+) | −(+) | + | + | + | −(+) | −(+) | −(+) | + | −(+) | Zhou et al. (2016) | Shank3*G3680 knock-in; STOCK Shank3tm3.1Gfng/J | Guoping Feng | JAX | #028778 | |
| 14 | point mutation | Homologous recombination (R1117X nonsense mutation) | Exon 21 | PRO | − | − | + | + | + | − | − | − | + | − | Zhou et al. (2016) | Shank3*R1117X knock-in; STOCK Shank3tm4.1Gfng/J | Guoping Feng | JAX | #028779 | |
| 15 | Deletion | Ubiquitous CMV-Cre/loxP-mediated excision | Exons 4-22 | ANK, SH3, PDZ, PRO, SAM | − | − | − | − | − | − | − | − | − | − | Wang et al. (2016) | Han et al. (2016) | Shank3Δe4–22 | Yong-Hui Jiang | NA | NA |
| 16 | over-expression | EGFP–Shank3 BAC transgenic mice | Full gene | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | ++ | Han et al. (2013) | Tg(Shank3-EGFP)1Hzo; B6.FVB-Tg(Shank3-EGFP)1Hzo/J | Huda Y Zoghbi | JAX | #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.