Table 2.
Many mouse models have been created to study Rett syndrome
| Allele type | Allele | Description | Male phenotype | References | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| RB | BW | BR | AX | M | PD | Age of death (weeks) | ||||
| Null | ||||||||||
| Mecp2 tm1.1Bird | Null | Exon 3–4 deletion | X | X^ | X | X | X | X | 6–12 | Guy et al. (2001) |
| Mecp2 tm1.1Jae | Null; some protein product retained | Exon 3 deletion | X | X* | X | X | X | X | 10 | Chen et al. (2001) |
| Mecp2 tm1Pplt | Null | MBD deletion | X | X | NT | X | X | X | 8 | Pelka et al. (2006) |
| Human point mutations | ||||||||||
| Mecp2 tm4.1Joez | R106W | Missense mutation | X | NT | NT | NT | NT | X | 10 | Unpublished; MGI submission |
| Mecp2 tm1Nlnd | Y120D | Missense mutation | X | X | NT | – | X | X | 14–17 | Gandaglia et al. (2018) |
| Mecp2 tm6.1Bird | R133C | Missense mutation | X | X | NT | X | X | X | 42 | Brown et al. (2016) |
| Mecp2 tm1.1Joez | T158A | Missense mutation | X | – | NT | X | X | X | 16 | Goffin et al. (2011) |
| Mecp2 tm4.1Bird | T158M | Missense mutation | X | X | NT | X | X | X | 13 | Lyst et al. (2013), Brown et al. (2016) |
| Mecp2 tm3.1Joez | T158M | Missense mutation | X | NT | NT | NT | NT | X | 14 | Unpublished; MGI submission |
| Mecp2 tm1.1Jtc | R168X | Stop mutation; truncation | X | X | X | X | X | X | 12–14 | Lawson-Yuen et al. (2007), Schaevitz et al. (2013), Wegener et al. (2014) |
| Mecp2 tm1.1Irsf | R255X | Stop mutation; truncation | X | X | X | X | X | X | 8–10 | Pitcher et al. (2015) |
| Mecp2 tm5.1Bird | R306C | Missense mutation | X | X | NT | X | X | X | 30 | Lyst et al. (2013), Brown et al. (2016) |
| Other mutations | ||||||||||
| Mecp2 tm2.1Jae | S80A | Missense mutation | NT | X* | NT | NT | X | NT | NT | Tao et al. (2009) |
| Mecp2 tm1Vnar | A140V | Missense mutation | – | – | – | – | – | – | Normal lifespan | Jentarra et al. (2010) |
| Mecp2 tm3Meg | T308A | Missense mutation | X | NT | NT | NT | X | NT | > 16 | Ebert et al. (2013) |
| Mecp2 tm1Hzo | R308X | Stop mutation; truncation | X | – | NT | X* | X | X | 6–12 | Shahbazian et al. (2002a) |
| Mecp2 tm1.1Meg | S421A | Missense mutation | – | – | – | – | – | – | Normal lifespan | Cohen et al. (2011) |
| Mecp2 tm1.1Mitoh | Deletion | Isoform 2 deletion | – | – | – | – | – | – | Normal lifespan | Itoh et al. (2012) |
| Mecp2 tm1.1Dhy | Deletion | Isoform 1 deletion | X | – | NT | X | X | X | 7–31 | Yasui et al. (2014) |
| Conditional alleles | ||||||||||
| Mecp2 tm1Bird | – | Exons 3–4 floxed | X* | – | X | X | X | – | Normal lifespan | Guy et al. (2001), Samaco et al. (2008) |
| Mecp2 tm1Jae | – | Exon 3 floxed | – | – | – | – | – | – | Normal lifespan | Chen et al. (2001) |
| Mecp2 tm2Bird | – | Floxed-stop upstream of exon 3 | X | X | X | X | X | X | 8–10 weeks | Guy et al. (2007) |
These mouse models include null alleles, point mutations designed to recapitulate mutations observed in human RTT patients, whole exon deletions, and conditional alleles used in combination with targeted Cre mice to achieve temporal deletion of Mecp2. In BW category, alleles marked with *which have an increased body weight, and alleles marked with ^show either increase or decrease depending on mouse background. In the AX category, alleles marked with *show increased anxiety
RB reduced brain size, BW body weight reduction, BR breathing abnormalities, AX reduced anxiety, MA motor abnormalities, PD premature death In categories, X present, – not present, NT not tested