A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing

• Main Authors: Yuko Nitahara-Kasahara (Author), Shuji Mizumoto (Author), Yukiko U. Inoue (Author), Shota Saka (Author), Guillermo Posadas-Herrera (Author), Aki Nakamura-Takahashi (Author), Yuki Takahashi (Author), Ayana Hashimoto (Author), Kohei Konishi (Author), Shinji Miyata (Author), Chiaki Masuda (Author), Emi Matsumoto (Author), Yasunobu Maruoka (Author), Takahiro Yoshizawa (Author), Toshiki Tanase (Author), Takayoshi Inoue (Author), Shuhei Yamada (Author), Yoshihiro Nomura (Author), Shin'ichi Takeda (Author), Atsushi Watanabe (Author), Tomoki Kosho (Author), Takashi Okada (Author)
• Format: Book
• Published: The Company of Biologists, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in CHST14 encoding dermatan 4-O-sulfotransferase 1 (D4ST1) (mcEDS-CHST14). Here, we generated mouse models for mcEDS-CHST14 carrying homozygous mutation...