Table 1.
Examples of currently published neuroanatomical assessments, using magnetic resonance imaging (MRI), and behavioral assessments in mouse models related to autism
| Model | MRI/DTI neuroanatomical abnormalities*(yes/no) | Reference(s) | Low social and/or repetitive behaviors (yes/no) | Reference(s) | |
|---|---|---|---|---|---|
| Comorbid syndromes | |||||
| 15q11-13 | 15q11-13 (patDp/+) | Yes | [144] | Yes | [143] |
| 16p11.2 deletion and duplication | 16p11.2 deletion (+/−) | Yes | [28] | No | [28] |
| 16p11.2 (df/+), (dp/+), (df/dp) | Yes | [54] | † | ||
| 22q11.2 | 22q11.2 (df/+) | Yes | [159] | No | [160] |
| FXS | Fmr1 (−/y) (B6) | No | [115] | Yes | [161] |
| Yes | [130, 162] | No | [30, 69] | ||
| Fmr1 (−/y) (FVB) | Yes | Submitted [163] | † | ||
| Rett syndrome | Mecp2 (−/y) – null | Yes | [116, 120, 121] | Yes | [164] |
| No | [165, 166] | ||||
| Mecp2 (−/y) – 308 | Yes | [163, 167] | Yes | [168] | |
| Tuberous sclerosis | Tsc1 (+/−) | No‡ | [126] | Yes | [19] |
| Turner syndrome | XO | Yes | [163, 169] | † | |
| Williams syndrome | Gtf2i (dp/dp) | Yes | [163] | † | |
| Gtf2i (+/−) | |||||
| Genetic associations | |||||
| Androgen receptor | AndR (12Q/y) | Yes | [163] | † | |
| AndR (48Q/y) | |||||
| CNTNAP2 | Cntnap2 (−/−) | No | [163] | Yes | [17] |
| Engrailed2 | En2 (−/−) | Yes | [163] | Yes | [20] |
| Ephrin-A | EphrinA2(−/−)A3(−/−) | † | Yes | [27] | |
| Integrinβ3 | Itgβ3 (−/−) | Yes | [133, 167] | Yes | [64] |
| Gabrb3 | Gabrb3 (−/−) | † | Yes | [21] | |
| MET | Met-fx | Yes | [170] | † | |
| Neurexin1α | Nrxn1α (+/−) | Yes | [163] | Yes | [171, 172] |
| Nrxn1α (−/−) | |||||
| Neuroligin2 | Nl2 (+/−) | † | No | [26] | |
| Nl2 (−/−) | |||||
| Neuroligin3 | Nl3 (−/y) | No | [125] | No | [125] |
| Nl3 (−/y) R451C KI | Yes | [131, 132, 167] | No, Yes | [31–33] | |
| Oxytocin | Oxt (+/−) | † | No | [24] | |
| Oxt (−/−) | |||||
| Oxytocin receptor | Oxtr (−/−) | † | Yes | [23] | |
| Pten | Pten (+/−) | † | Yes | [18] | |
| Reelin | Reln | Yes | [173] | No | [173] |
| Ube3a | Ube3a (2XTg) | † | Yes | [22] | |
| Shank1 | Shank1 (+/−) | † | No | [25] | |
| Shank1 (−/−) | |||||
| Shank3 Exon 4–9 | Shank3 (+/−) | Yes | [163] | Yes | [15, 16, 47, 174, 175] |
| Shank3 (−/−) | |||||
| Slc6a4 (SERT) | Slc6a4 (−/−) | No | [163] | Yes | [29] |
| Slc6a4 (Ala56/Ala56) | |||||
| (B6), (129) | |||||
| Inbred strains | |||||
| BALB/cJ | BALBC/J | Yes | [154] | Yes | [45, 46] |
| BTBR | BTBR | Yes | [149, 151, 152] | Yes | [10, 12, 37–40, 42–44, 52] |
| C58/J | C58 | † | Yes | [58] | |
| Deer mice | Deer Mice | † | Yes | [59] | |
FXS fragile X syndrome; SERT Serotonin Transporter
*Neuroanatomical abnormalities mentioned here are defined by volumetric differences as measured by MRI and/or fractional anisotropy/mean diffusivity differences as measured with diffusion tensor imaging (DTI)
†Experiments not done or not published
‡It should be noted that while the paper on tuberous sclerosis reported no measures in volume and/or the DTI metrics of interest there were other neurological findings