Article
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.
Human molecular genetics - 1 Mar 2003
Kikkawa Yoshiaki, Shitara Hiroshi, Wakana Shigeharu, Kohara Yuki, Takada Toyoyuki, Okamoto Mieko, Taya Choji, Kamiya Kazusaku, Yoshikawa Yasuhiro, Tokano Hisashi, Kitamura Ken, Shimizu Kunihiko, Wakabayashi Yuichi, Shiroishi Toshihiko, Kominami Ryo, Yonekawa Hiromichi
Abstract excerpt
The Jackson shaker (js) mouse carries a recessive mutation causing phenotypes such as deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia. Two alleles have been identified so far, the original js and js(seal). A contig of three BAC clones was isolated by positional cloning. Two of the clones rescue the js phenotype by BAC transgenesis. Analysis of transcripts in...
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