Extended Data Table 1:
Cardiac morphometry and function in TSC2 S1365E (SE) and S1365A (SA) KI mice, versus respective age-matched littermate controls.
| Mice Aged 2–3 Months | ||||||||||
| TSC2 WT | n | TSC2S1365E | n | p-value | TSC2 WT | n | TSC2 S1365A | n | p-value | |
| Body Weight (g) | 25.0 ± 4.1 | 11 | 23.9 ± 2.9 | 13 | 0.60 | 22.5 ± 3.3 | 12 | 21.8 ± 2.4 | 13 | 0.60 |
| Heart Weight (mg) | 119.7 ± 23.6 | 6 | 113.6 ± 12.4 | 7 | 0.88 | 117.0 ± 24.7 | 5 | 114.9 ± 12.7 | 4 | 0.88 |
| Left Ventricular Weight (mg) | 84.7 ± 17.6 | 6 | 80.5 ± 9.8 | 7 | 0.44 | 81.2 ± 13.4 | 5 | 75.4 ± 4.8 | 4 | 0.44 |
| Lung Weight (mg) | 141.7 ± 14.5 | 6 | 128.3 ±13.0 | 7 | 0.72 | 133.4 ± 15.0 | 5 | 130.2 ± 10.8 | 4 | 0.72 |
| Tibial Length (mm) | 17.8 ± 0.8 | 6 | 17.6 ± 0.5 | 7 | 0.30 | 18.2 ± 0.8 | 5 | 17.8 ± 0.3 | 4 | 0.30 |
| HW/TL | 6.7 ± 1.1 | 6 | 6.4 ± 0.6 | 7 | 0.92 | 6.4 ± 1.1 | 5 | 6.5 ± 0.6 | 4 | 0.92 |
| LVW/TL | 4.7 ± 0.8 | 6 | 4.6 ± 0.5 | 7 | 0.57 | 4.5 ± 0.6 | 5 | 4.3 ± 0.3 | 4 | 0.57 |
| LuW/TL | 7.9 ± 0.6 | 6 | 7.3 ± 0.7 | 7 | 1.00 | 7.3 ± 0.7 | 5 | 7.3 ± 0.5 | 4 | 1.00 |
| Heart Rate (bpm) | 680.4 ± 56.6 | 11 | 690.0 ± 67.9 | 13 | 0.60 | 675.8 ± 21.4 | 12 | 683.2 ± 42.9 | 11 | 0.60 |
| %Ejection Fraction | 82.0 ± 1.5 | 11 | 83.4 ± 3.7 | 13 | 0.74 | 82.1 ± 1.6 | 12 | 81.8 ± 2.6 | 11 | 0.74 |
| %Fractional Shortening | 57.6 ± 3.0 | 11 | 59.5 ± 4.4 | 13 | 0.76 | 57.7 ± 1.9 | 12 | 57.4 ± 2.9 | 11 | 0.76 |
| Mice Aged 9–12 Months | ||||||||||
| TSC2 WT | n | TSC2S1365E | n | p-value | TSC2 WT | n | TSC2 S1365A | n | p-value | |
| Body Weight (g) | 30.2 ± 3.0 | 6 | 28.5 ± 3.5 | 7 | 0.37 | 29.6 ± 3.1 | 8 | 29.2 ± 4.2 | 7 | 0.37 |
| Heart Weight (mg) | 163.4 ±2 5.6 | 6 | 147.9 ± 26.3 | 7 | 0.31 | 159.5 ± 25.0 | 8 | 167.3 ± 32.2 | 7 | 0.31 |
| Left Ventricular Weight (mg) | 119.2 ± 23.1 | 6 | 109.3 ± 27.1 | 7 | 0.50 | 125.7 ± 25.6 | 8 | 134.8 ± 33.9 | 7 | 0.50 |
| Lung Weight (mg) | 149.2 ± 20.9 | 6 | 130.8 ± 17.4 | 7 | 0.11 | 141.4 ± 24.5 | 8 | 161.5 ± 37.5 | 7 | 0.11 |
| Tibial Length (mm) | 19.7 ± 1.4 | 6 | 19.6 ± 1.3 | 7 | 0.90 | 19.1 ± 1.1 | 8 | 19.1 ± 1.2 | 7 | 0.98 |
| HW/TL | 8.3 ± 0.85 | 6 | 7.5 ± 0.9 | 7 | 0.14 | 8.3 ± 0.9 | 8 | 8.7 ± 1.4 | 7 | 0.51 |
| LVW/TL | 6.0 ± 0.9 | 6 | 5.5 ± 1.0 | 7 | 0.37 | 6.5 ± 1.0 | 8 | 7.0 ± 1.6 | 7 | 0.50 |
| LuW/TL | 7.6 ± 0.7 | 6 | 6.7 ± 0.7 | 7 | 0.04 | 7.4 ± 0.9 | 8 | 8.4 ± 1.7 | 7 | 0.15 |
| Heart Rate (bpm) | 704.2 ± 37.5 | 6 | 693.6 ± 25.3 | 7 | 0.56 | 671.3 ±7 4.3 | 8 | 659.3 ± 86.4 | 7 | 0.56 |
| %Ejection Fraction | 77.2 ± 2.9 | 6 | 77.0 ± 2.7 | 7 | 0.90 | 80.8 ± 1.9 | 8 | 68.2 ± 24.6 | 7 | 0.90 |
| %Fractional Shortening | 52.3 ± 3.1 | 6 | 52.1 ±2.8 | 7 | 0.89 | 52.3 ± 2.2 | 8 | 46.5 ± 19.4 | 7 | 0.89 |
The upper table provides results for aged 2–3 month mice (age used in study), and lower table for 9–12 month aged mice. The results show negligible impact of the TSC2 KI mutations in the basal state at both ages. TL – tibia length, bpm – beats/minute. P values are for a two-sided unpaired Student’s t-test.