Table 2.
Volume Differences in the NL3 KI, MECP2 308 and ITGB3 Mouse Models
| Structure | Volume (mean ± SD) absolute (mm3)
|
Relative volume % difference | Effect size | q-value | |
|---|---|---|---|---|---|
| WT | ASD Model | ||||
| NL3 KI | |||||
| Total brain volume | 477 ± 19 | 438 ± 18 | −8a | −2.06 | 0.02 |
| Total cerebellum volume | 61 ± 2 | 58 ± 4 | −5a | −1.32 | 0.2 |
| Crus II: ansiform lobule (lobule 7) | 3.9 ± 0.2 | 4.0 ± 0.2 | 10 | 1.94 | 3 × 10−2 |
| Paraflocculus (PFL) | 4.4 ± 0.4 | 4.5 ± 0.4 | 12 | 1.45 | 5 × 10−2 |
| Crus II white matter | 0.34 ± 0.03 | 0.35 ± 0.03 | 11 | 1.84 | 4 × 10−2 |
| MECP2 hemizygous | |||||
| Total brain volume | 478 ± 11 | 465 ± 11 | −3a | −1.22 | 0.1 |
| Total cerebellum volume | 54 ± 1 | 55 ± 3 | 1a | 0.57 | 0.6 |
| Lobule IX | 2.8 ± 0.2 | 3.0 ± 0.3 | 11 | 1.78 | 2 × 10−2 |
| Lobule X | 1.29 ± 0.04 | 1.4 ± 0.1 | 11 | 3.95 | 3 × 10−3 |
| Lobule IX white matter | 0.38 ± 0.02 | 0.41 ± 0.04 | 12 | 2.30 | 1 × 10−2 |
| MECP2 heterozygous | |||||
| Total brain volume | 478 ± 11 | 464 ± 21 | −31 | −1.35 | 0.03 |
| Total cerebellum volume | 54 ± 1 | 55 ± 4 | 21 | 0.79 | 0.4 |
| Lobule VI | 2.51 ± 0.08 | 2.6 ± 0.2 | 7 | 1.72 | 6 × 10−4 |
| Lobule VIII | 1.54 ± 0.08 | 1.6 ± 0.2 | 8 | 1.54 | 5 × 10−2 |
| Lobule X | 1.29 ± 0.04 | 1.4 ± 0.1 | 12 | 4.28 | 2 × 10−2 |
| Anterior lobule (lobules 4–5) | 1.8 ± 0.1 | 1.8 ± 0.1 | 6 | 1.20 | 2 × 10−2 |
| Simple lobule (lobule 6) | 4.8 ± 0.1 | 4.9 ± 0.4 | 5 | 1.80 | 3 × 10−2 |
| Crus I: ansiform lobule (lobule 6) | 4.4 ± 0.1 | 4.6 ± 0.4 | 6 | 1.87 | 2 × 10−2 |
| Crus II: ansiform lobule (lobule 7) | 4.0 ± 0.2 | 4.2 ± 0.4 | 6 | 1.64 | 2 × 10−2 |
| Copula white matter | 0.09 ± 0.02 | 0.10 ± 0.01 | 9 | 1.33 | 2 × 10−2 |
| MECP2 homozygous | |||||
| Total brain volume | 478 ± 11 | 468 ± 12 | −2a | −0.93 | 9 × 10−2 |
| Total cerebellum volume | 54 ± 1 | 57 ± 1 | 5a | 2.41 | 6 × 10−3 |
| Lobule III | 1.9 ± 0.2 | 2.0 ± 0.2 | 8 | 1.01 | 4 × 10−2 |
| Lobules IV–V | 4.1 ± 0.3 | 4.3 ± 0.2 | 5 | 0.89 | 4 × 10−2 |
| Lobule VI | 2.51 ± 0.08 | 2.64 ± 0.08 | 7 | 1.72 | 4 × 10−4 |
| Lobule VII | 0.88 ± 0.05 | 0.93 ± 0.09 | 8 | 1.36 | 2 × 10−2 |
| Lobule VIII | 1.54 ± 0.08 | 1.7 ± 0.1 | 10 | 1.96 | 1 × 10−3 |
| Lobule IX | 2.8 ± 0.2 | 3.2 ± 0.2 | 16 | 2.50 | 8 × 10−5 |
| Lobule X | 1.29 ± 0.04 | 1.5 ± 0.1 | 14 | 5.05 | 8 × 10−6 |
| Anterior lobule (lobules 4–5) | 1.8 ± 0.1 | 1.85 ± 0.07 | 8 | 1.65 | 1 × 10−3 |
| Simple lobule (lobule 6) | 4.8 ± 0.1 | 5.0 ± 0.2 | 6 | 2.41 | 3 × 10−3 |
| Crus I: ansiform lobule (lobule 6) | 4.4 ± 0.1 | 4.7 ± 0.2 | 8 | 2.49 | 1 × 10−3 |
| Crus II: ansiform lobule (lobule 7) | 4.0 ± 0.2 | 4.3 ± 0.2 | 9 | 2.25 | 7 × 10−4 |
| Copula: pyramis (lobule 8) | 2.4 ± 0.1 | 2.5 ± 0.1 | 6 | 1.09 | 6 × 10−2 |
| Paraflocculus (PFL) | 3.9 ± 0.3 | 4.3 ± 0.4 | 13 | 1.94 | 2 × 10−3 |
| Lobule VIII white matter | 0.19 ± 0.01 | 0.20 ± 0.01 | 7 | 0.91 | 4 × 10−2 |
| Lobule IX white matter | 0.38 ± 0.02 | 0.42 ± 0.03 | 13 | 2.48 | 4 × 10−4 |
| Anterior lobule white matter | 0.09 ± 0.01 | 0.10 ± 0.01 | 8 | 1.27 | 2 × 10−2 |
| Crus I white matter | 0.45 ± 0.02 | 0.46 ± 0.02 | 6 | 1.47 | 4 × 10−2 |
| Copula white matter | 0.09 ± 0.02 | 0.10 ± 0.01 | 13 | 1.88 | 7 × 10−4 |
| Paraflocculus white matter | 0.36 ± 0.02 | 0.38 ± 0.02 | 7 | 1.25 | 6 × 10−3 |
| ITGB3 | |||||
| Total brain volume | 483 ± 21 | 430 ± 12 | −11a | −2.52 | 2 × 10−5 |
| Total cerebellum volume | 62 ± 4 | 49 ± 2 | −20a | −3.04 | 3 × 10−3 |
| Lobules I–II | 2.1 ± 0.3 | 1.4 ± 0.2 | −26 | −2.35 | 2 × 10−4 |
| Lobule III | 2.4 ± 0.3 | 1.9 ± 0.1 | −12 | −1.31 | 6 × 10−4 |
| Lobules IV–V | 4.9 ± 0.5 | 3.8 ± 0.2 | −12 | −1.76 | 4 × 10−3 |
| Lobule VI | 2.9 ± 0.3 | 2.24 ± 0.09 | −11 | −1.52 | 1 × 10−4 |
| Llobule VII | 0.9 ± 0.1 | 0.71 ± 0.07 | −14 | −1.37 | 2 × 10−4 |
| Lobule VIII | 1.6 ± 0.1 | 1.23 ± 0.09 | −15 | −2.28 | 5 × 10−4 |
| Lobule IX | 3.1 ± 0.3 | 2.3 ± 0.1 | −15 | −1.74 | 2 × 10−5 |
| Lobule X | 1.5 ± 0.2 | 1.17 ± 0.08 | −14 | −1.64 | 3 × 10−3 |
| Simple lobule (lobule 6) | 6.0 ± 0.4 | 4.6 ± 0.2 | −14 | −2.85 | 8 × 10−7 |
| Crus I: ansiform lobule (lobule 6) | 5.4 ± 0.4 | 4.3 ± 0.2 | −11 | −1.87 | 1 × 10−4 |
| Copula: pyramis (lobule 8) | 2.6 ± 0.2 | 2.1 ± 0.1 | −9 | −1.04 | 1 × 10−2 |
| Trunk of arbor vita | 4.4 ± 0.3 | 3.4 ± 0.1 | −12 | −3.29 | 1 × 10−7 |
| Lobule I–II white matter | 0.09 ± 0.01 | 0.05 ± 0.01 | −42 | −4.21 | 1 × 10−7 |
| Lobule III white matter | 0.29 ± 0.04 | 0.19 ± 0.02 | −27 | −2.20 | 2 × 10−5 |
| Trunk of lobules I–III white matter | 0.16 ± 0.02 | 0.11 ± 0.01 | −25 | −3.06 | 5 × 10−7 |
| Lobules IV–V white matter | 0.81 ± 0.09 | 0.62 ± 0.04 | −13 | −1.61 | 8 × 10−4 |
| Lobules VI–VII white matter | 0.88 ± 0.09 | 0.69 ± 0.04 | −11 | −1.55 | 2 × 10−3 |
| Lobule VIII white matter | 0.19 ± 0.02 | 0.14 ± 0.01 | −20 | −2.28 | 2 × 10−5 |
| Trunk of lobules VI–VIII white matter | 0.13 ± 0.01 | 0.10 ± 0.01 | −10 | −1.70 | 2 × 10−3 |
| Lobule IX white matter | 0.40 ± 0.03 | 0.28 ± 0.01 | −20 | −3.16 | 3 × 10−7 |
| Lobule X white matter | 0.11 ± 0.02 | 0.08 ± 0.01 | −21 | −1.52 | 5 × 10−4 |
| Anterior lobule white matter | 0.10 ± 0.01 | 0.09 ± 0.01 | −8 | −1.01 | 2 × 10−2 |
| Simple lobule white matter | 0.54 ± 0.04 | 0.35 ± 0.05 | −27 | −5.37 | 2 × 10−7 |
| Crus I white matter | 0.51 ± 0.04 | 0.33 ± 0.04 | −27 | −3.97 | 8 × 10−7 |
| Trunk of simple and crus I white matter | 0.19 ± 0.01 | 0.18 ± 0.01 | 8 | 1.38 | 1 × 10−2 |
| Copula white matter | 0.10 ± 0.01 | 0.08 ± 0.01 | −10 | −1.32 | 6 × 10−3 |
| Dentate nucleus | 0.34 ± 0.02 | 0.26 ± 0.01 | −14 | −2.53 | 3 × 10−6 |
| Nucleus interpositus | 0.43 ± 0.04 | 0.32 ± 0.02 | −15 | −2.12 | 3 × 10−5 |
| Fastigial nucleus | 0.43 ± 0.04 | 0.32 ± 0.01 | −15 | −2.64 | 2 × 10−6 |
a
Percent difference of absolute volume, not relative volume.
ASD, autism spectrum disorder; ITGB3, integrin β3; NL3 KI, neuroligin-3 R451C knock-in; MECP2, methyl-CpG binding protein-2; SD, standard deviation; WT, wild type.