- Ellegood, J;
- Anagnostou, E;
- Babineau, BA;
- Crawley, JN;
- Lin, L;
- Genestine, M;
- DiCicco-Bloom, E;
- Lai, JKY;
- Foster, JA;
- Peñagarikano, O;
- Geschwind, DH;
- Pacey, LK;
- Hampson, DR;
- Laliberté, CL;
- Mills, AA;
- Tam, E;
- Osborne, LR;
- Kouser, M;
- Espinosa-Becerra, F;
- Xuan, Z;
- Powell, CM;
- Raznahan, A;
- Robins, DM;
- Nakai, N;
- Nakatani, J;
- Takumi, T;
- van Eede, MC;
- Kerr, TM;
- Muller, C;
- Blakely, RD;
- Veenstra-VanderWeele, J;
- Henkelman, RM;
- Lerch, JP
Autism is a heritable disorder, with over 250 associated genes identified to date, yet no single gene accounts for >1-2% of cases. The clinical presentation, behavioural symptoms, imaging and histopathology findings are strikingly heterogeneous. A more complete understanding of autism can be obtained by examining multiple genetic or behavioural mouse models of autism using magnetic resonance imaging (MRI)-based neuroanatomical phenotyping. Twenty-six different mouse models were examined and the consistently found abnormal brain regions across models were parieto-temporal lobe, cerebellar cortex, frontal lobe, hypothalamus and striatum. These models separated into three distinct clusters, two of which can be linked to the under and over-connectivity found in autism. These clusters also identified previously unknown connections between Nrxn1α, En2 and Fmr1; Nlgn3, BTBR and Slc6A4; and also between X monosomy and Mecp2. With no single treatment for autism found, clustering autism using neuroanatomy and identifying these strong connections may prove to be a crucial step in predicting treatment response.