Craniosynostosis in transgenic mice overexpressing Nell-1
Xinli Zhang, Shun’ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting
Xinli Zhang, Shun’ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting
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Article Genetics

Craniosynostosis in transgenic mice overexpressing Nell-1

Abstract

Research Article

Authors

Xinli Zhang, Shun’ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting

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Phenotypic evaluation of Nell-1 transgenic mice. (a and b) Left panels s...
Phenotypic evaluation of Nell-1 transgenic mice. (a and b) Left panels show a newborn Nell-1 phenotype–positive (TF2A1) mouse. Note the protrusion in the frontoparietal area (arrows). Right panels show an NF2 littermate. (c) Left panel, TF2A2 mouse with the scalp removed. The sagittal (yellow arrow) and PF (black arrow) sutures are closed. Right panel, skull of the NF2 littermate with patent sagittal (yellow arrows) and PF (black arrow) sutures and normal vasculature underneath the patent sutures. (d) An infant with craniotelencephalic dysplasia, a severe form of CS. (e) Brain MRI of TF2A1 mouse (left) and NF2 littermate (right). Note the complete absence of ventricles, suggesting elevated intracranial pressure in the TF2A1 mouse (arrows, left) relative to its NF2 littermate (arrows, right). (f) MCT-reconstructed three-dimensional skull views of the newborn Nell-1 phenotype-positive TF2A1 (left) and NF2 (right) littermates. Arrows indicate sagittal and PF suture sites. In TF2A1 mice, the sagittal and PF sutures are largely closed and replaced with an abnormal ridge. In the NF2 littermate, both sagittal and PF sutures are patent. Complete opacity corresponds to greater than 50 mg/cc mineralization. The vertical rods in the background are phantom reference rods corresponding to mineralization densities (from left to right) of 50, 100, 150, and 200 mg/cc. (g) Serial axial MCT sections of the TF2A1 (left) and NF2 littermates (right) shown in f. Yellow arrows indicate the distortion of the cranium. Green arrows indicate increased mineralization of the calvarium in the TF2A mouse (arrow, right).