Decreased Expression of Synaptophysin 1 (SYP1 Major Synaptic Vesicle Protein p38) and Contactin 6 (CNTN6/NB3) in the Cerebellar Vermis of reln Haplodeficient Mice.

Reeler heterozygous mice (reln^+/-) are seemingly normal but haplodeficient in reln, a gene implicated in autism. Structural/neurochemical alterations in the reln^+/- brain are subtle and difficult to demonstrate. Therefore, the usefulness of these mice in translational research is still debated. As evidence implicated several synapse-related genes in autism and the cerebellar vermis is structurally altered in the condition, we have investigated the expression of synaptophysin 1 (SYP1) and contactin 6 (CNTN6) within the vermis of reln^+/- mice. Semi-thin plastic sections of the vermis from adult mice of both sexes and different genotypes (reln^+/- and reln^+/+) were processed with an indirect immunofluorescence protocol. Immunofluorescence was quantified on binary images and statistically analyzed. Reln^+/- males displayed a statistically significant reduction of 11.89% in the expression of SYP1 compared to sex-matched wild-type animals, whereas no differences were observed between reln^+/+ and reln^+/- females. In reln^+/- male mice, reductions were particularly evident in the molecular layer: 10.23% less SYP1 than reln^+/+ males and 5.84% < reln^+/+ females. In reln^+/- females, decrease was 9.84% versus reln^+/+ males and 5.43% versus reln^+/+ females. Both reln^+/- males and females showed a stronger decrease in CNTN6 expression throughout all the three cortical layers of the vermis: 17-23% in the granular layer, 24-26% in the Purkinje cell layer, and 9-14% in the molecular layer. Altogether, decrease of vermian SYP1 and CNTN6 in reln^+/- mice displayed patterns compatible with the structural modifications of the autistic cerebellum. Therefore, these mice may be a good model in translational studies.

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