JCI - Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients

Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients

Tetsushi Sadakata, Miwa Washida, Yoshimi Iwayama, Satoshi Shoji, Yumi Sato, Takeshi Ohkura, Ritsuko Katoh-Semba, Mizuho Nakajima, Yukiko Sekine, Mika Tanaka, Kazuhiko Nakamura, Yasuhide Iwata, Kenji J. Tsuchiya, Norio Mori, Sevilla D. Detera-Wadleigh, Hironobu Ichikawa, Shigeyoshi Itohara, Takeo Yoshikawa, Teiichi Furuichi

Published in Volume 117, Issue 4

J Clin Invest. 2007; 117(4):931–943 doi:10.1172/JCI29031

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Figure 5

Abnormal immunohistochemical findings in the Cadps2^–/– mouse neocortex.

(A–C) Sagittal sections of the P8 motor cortex immunostained for CADPS2 (green in A) and BDNF (red in B). A merged image is shown in C. I, II/III, IV, V, and VI represent cortical layers. Scale bars: 100 μm. (D–G) Sagittal sections of WT (D) and Cadps2^–/– (E–G) P17 motor cortex immunostained for parvalbumin. (F and G) Sections were prepared from P17 Cadps2^–/– mice 12 days after an icv injection of either vehicle (veh inj) (F) or BDNF (BDNF inj) (G). Scale bars: 200 μm. (H) Cell density of parvalbumin-positive neurons in the P17 motor cortex. The error bars indicate SD. (I) BDNF release activity in WT (white bars) and Cadps2^–/– (black bars) neocortical cultures was evaluated at 21 DIV by measuring the amounts of BDNF spontaneously secreted into the culture medium over the course of 21 days. Activity is indicated in BDNF concentration (pg/μl) normalized to cell density (/mm²). Average values obtained from 6 independent experiments are shown. The error bars indicate SD. **P < 0.01, Student’s t test.