Table 1.
Mouse muscular dystrophy models with inactivations or mutations in DAPC components
| Mouse model name and mutated gene | DAPC Component | Nature of mouse model | References | Model of human disease |
|---|---|---|---|---|
| Mdx Dystrophin | Dystrophin | Spontaneous mutation exon 23 – loss of Dp427 isoform | Bulfield et al. (1984), Barton (2006) | Duchenne muscular dystrophy (DMD) |
| Mdx2Cv Dystrophin | Dystrophin | Mutation intron 42 - loss of Dp427 and Dp260 isoforms | Chapman et al. (1989), Im et al. (1996) | DMD |
| Mdx3Cv Dystrophin | Dystrophin | Mutation exon 65 – loss of Dp427, Dp260, Dp140, Dp116, Dp40 and Dp71 isoforms | Chapman et al. (1989), Cox et al. (1993b) | DMD |
| Mdx4Cv Dystrophin | Dystrophin | Mutation exon 53 – loss of Dp427, Dp260 and Dp140 isoforms | Chapman et al. (1989), Im et al. (1996) | DMD |
| Mdx5Cv Dystrophin | Dystrophin | Mutation exon 10 – loss of Dp427 isoform | Im et al. (1996) | DMD |
| Mdx52 Dystrophin | Dystrophin | Mutation exon 52 – loss of Dp427, Dp260 and Dp140 isoforms | Araki et al. (1997) | DMD |
| DMDmdx−βgeo Dystrophin | Dystrophin | Mutation exon 63 – loss of all dystrophin isoforms | Wertz and Fuchtbauer (1998) | DMD |
| DMD-null Dystrophin | Dystrophin | Global knockout of dystrophin isoforms | Kudoh et al. (2005) | DMD |
| MCK-DG null Dag1 – Dystroglycan | Dystroglycan | Conditional knockout under muscle creatinine kinase (MCK) promoter | Cohn et al. (2002) | N/A |
| MORE-DG null Dag1 | Dystroglycan | Conditional knockout – everywhere except Reichert's membrane | Satz et al. (2008) | N/A |
| DG chimera Dag1 – Dystroglycan1 | Dystroglycan | Dystroglycan chimera | Cote et al. (1999) | N/A |
| POMGnT1-null POMGnT1 – Protein-O-mannose β-1,2-N-acetylglucosaminyltransferase | Dystroglycan glycosylation | Global knockout of POMGnT1 | Liu et al. (2006) | Walker–Warburg syndrome (WWS), muscle–eye–brain (MEB) disease, limb girdle muscular dystrophy type 2M (LGMD2O) |
| POMGnT1−/− POMGnT1 | Dystroglycan glycosylation | Global knockout POMGnT1 | Miyagoe-Suzuki et al. (2009) | WWS, MEB disease, LGMD2O |
| FKRPMD Fkrp – fukutin-related protein | Dystroglycan glycosylation | Knock-down in all cells except those expressing Sox1 | Whitmore et al. (2014) | WWS, MEB disease, congenital muscular dystrophy type 1C (MDC1C), LGMD 2I |
| FKRP P448Lneo+ Fkrp | Dystroglycan glycosylation | Global knock-down in expression | Chan et al. (2010) | WWS, MEB disease, MDC1C, LGMD2I |
| FKRP P448L Fkrp | Dystroglycan glycosylation | Global point mutation | Blaeser et al. (2013) | WWS, MEB disease, MDC1C, LGMD2I |
| FKRP L276Ineo+/P448Lneo+ Fkrp – fukutin-related protein | Dystroglycan glycosylation | Global point mutation + reduction in expression | Blaeser et al. (2013) | WWS, MEB disease, MDC1C, LGMD2I |
| FKRP L276Ineo+/E310delneo+Fkrp | Dystroglycan glycosylation | Global point mutation + reduction in expression | Blaeser et al. (2013) | WWS, MEB disease, MDC1C, LGMD2I |
| Largemyd Large – Like-acetylglucosaminyltransferase | Dystroglycan glycosylation | Global knockout Large | Lane et al. (1976), Mathews et al. (1995) Grewal et al. (2005) | WWS, MEB disease, MDC1D |
| Largeenr Large | Dystroglycan glycosylation | Global knockout Large | Kelly et al. (1994) Levedakou et al. (2005) | WWS, MEB disease, MDC1D |
| Largevls Large | Dystroglycan glycosylation | Global knockout Large | Lee et al. (2005) | WWS, MEB disease, MDC1D |
| Myf5-Cre-FKTN-KO Fktn – fukutin | Dystroglycan glycosylation | Conditional knockout under Myf5 promoter | Beedle et al. (2012) | WWS, MEB disease, FCMD, LGMD2M |
| MCK-Cre-FKTN-KO Fktn | Dystroglycan glycosylation | Conditional knockout of under MCK promoter | Beedle et al. (2012) | WWS, MEB disease, FCMD, LGMD2M |
| Postnatal fukutin null Fktn – fukutin | Dystroglycan glycosylation | Global knockout of fukutin from 6 weeks | Beedle et al. (2012) | WWS, MEB disease, FCMD, LGMD2M |
| Fukutin chimera Fktn – fukutin | Dystroglycan glycosylation | Fukutin chimera | Takeda et al. (2003) | WWS, MEB disease, Fukuyama congenital muscular dystrophy (FCMD), LGMD2M |
| Sgca-null Sgca – α-sarcoglycan | α-Sarcoglycan | Global knockout | Duclos et al. (1998), Consolino et al. (2005), Jakubiec-Puka et al. (2005), Patel et al. (2003) | LGMD2D |
| Sgcb-null Sgcb – β-sarcoglycan | β-Sarcoglycan | Global knockout | Durbeej et al. (2000), Andersson et al. (2012) | LGMD2E |
| gsg−/−A Sgcg – γ-sarcoglycan | γ-Sarcoglycan | Global knockout | Hack et al. (1998, 1999), Barton (2006) | LGMD2C |
| gsg−/−B Sgcg | γ-Sarcoglycan | Global knockout | Sasaoka et al. (2003) | LGMD2C |
| dsg−/− Sgcd – δ-sarcoglycan | δ-Sarcoglycan | Global knockout | Hack et al. (2000) | LGMD2F |
| Scgd-null Sgcd | δ-Sarcoglycan | Global knockout | Coral-Vazquez et al. (1999), Wansapura et al. (2011) | LGMD2F |
| abdn−/− abdn – α-dystrobrevin | α-Dystrobrevin | Global knockout of α-dystrobrevin splice isoforms with exon 3 | Grady et al. (1999), Bunnell et al. (2008) | Left ventricular non-compaction 1 (LVNC1) |
This table lists all the mouse models mentioned in this review by name, identifying which part of the DAPC is affected and describing the nature of the model. For ease of reading, we have left the frequently cited references out of the text, so this table also contains those references used to gather the majority of the information about each mouse model.