Article
Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.
Human molecular genetics - 15 May 2016
Miyasaka Yuki, Shitara Hiroshi, Suzuki Sari, Yoshimoto Sachi, Seki Yuta, Ohshiba Yasuhiro, Okumura Kazuhiro, Taya Choji, Tokano Hisashi, Kitamura Ken, Takada Toyoyuki, Hibino Hiroshi, Shiroishi Toshihiko, Kominami Ryo, Yonekawa Hiromichi, Kikkawa Yoshiaki
Abstract excerpt
Most clinical reports have suggested that patients with congenital profound hearing loss have recessive mutations in deafness genes, whereas dominant alleles are associated with progressive hearing loss (PHL). Jackson shaker (Ush1gjs) is a mouse model of recessive deafness that exhibits congenital profound deafness caused by the homozygous mutation of Ush1g/Sans on chromosome 11. We found that C57BL/6J-Ush1gjs/+...
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