Table 2.
Modeling SBMA—mouse models
| Mouse model | Promoter | Motor dysfunction | Decreased lifespan | Motor neuron pathology | Muscle pathology | PolyQ length dependent | Reference |
|---|---|---|---|---|---|---|---|
| Transgenic AR97Q | Chicken β-actin | Yes (8 weeks) | Yes | Yes | Yes | Yes | [177] |
| Transgenic AR121Q* | Chicken β-actin | Yes (4 weeks) | Yes | Yes | Yes | Yes | [176] |
| Transgenic AR112Q | Prion protein | Yes (8 weeks) | No | Yes | No | Yes | [178] |
| YAC transgenic AR100Q | Endogenous human | Yes (11 months) | Yes | Yes | Yes | Yes | [180] |
| BAC transgenic AR121Q† | Endogenous human | Yes (13 weeks) | Yes | Yes | Yes | Yes | [8] |
| Transgenic AR22Q | Human skeletal α-actin | Yes | Yes | Yes | Yes | No | [181] |
| Knock-in AR113Q | Endogenous mouse | Yes (8 weeks) | No‡ | No | Yes | Yes | [185] |
SBMA animal models are further reviewed by Pennuto and Basso [225]
*Chicken β-actin-AR121Q mice express a polyQ tract encoded by alternating CAG/CAA repeats
†BAC AR121Q mice contain loxP sites flanking exon 1
‡Urinary tract obstruction leads to early death in a subset of AR113Q knock-in mice. Mice that survive this bottleneck live a normal lifespan