Ontology highlight
ABSTRACT:
SUBMITTER: Nojima S
PROVIDER: S-EPMC3562463 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Nojima Satoshi S Toyofuku Toshihiko T Kamao Hiroyuki H Ishigami Chie C Kaneko Jun J Okuno Tatsusada T Takamatsu Hyota H Ito Daisuke D Kang Sujin S Kimura Tetsuya T Yoshida Yuji Y Morimoto Keiko K Maeda Yohei Y Ogata Atsushi A Ikawa Masahito M Morii Eiichi E Aozasa Katsuyuki K Takagi Junichi J Takahashi Masayo M Kumanogoh Atsushi A
Nature communications 20130101
Semaphorin 4A (Sema4A) has an essential role in photoreceptor survival. In humans, mutations in Sema4A are thought to contribute to retinal degenerative diseases. Here we generate a series of knock-in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that Sema4A(F350C) causes retinal degeneration phenotypes. The F350C mutation results in abnormal localization of the Sema4A protein, leading to impaired endosomal sorting of molecules indispensable for pho ...[more]