Pannexin 1 Transgenic Mice: Human Diseases and Sleep-Wake Function Revision.

ABSTRACT: In humans and other vertebrates pannexin protein family was discovered by homology to invertebrate gap junction proteins. Several biological functions were attributed to three vertebrate pannexins members. Six clinically significant independent variants of the PANX1 gene lead to human infertility and oocyte development defects, and the Arg217His variant was associated with pronounced symptoms of primary ovarian failure, severe intellectual disability, sensorineural hearing loss, and kyphosis. At the same time, only mild phenotypes were observed in Panx1 knockout mice. In addition, a passenger mutation was identified in a popular line of Panx1 knockout mice, questioning even those effects. Using CRISPR/Cas9, we created a new line of Panx1 knockout mice and a new line of mice with the

SUBMITTER: Battulin N 

PROVIDER: S-EPMC8155943 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature