Article
External genitalia phenotypes of a Mab21l1-null mouse model for cerebellar, ocular, craniofacial, and genital (COFG) syndrome.
Anatomical record (Hoboken, N.J. : 2007) - 1 May 2024
Promsut Watcharapon, Yamada Ryuichi, Takami Shohei, Miyazaki Nanae, Uemura Mami, Hiramatsu Ryuji, Takahashi Naoki, Kanai Yoshiakira
Abstract excerpt
The cerebellar, ocular, craniofacial, and genital (COFG) syndrome is a human genetic disease that is caused by MAB21L1 mutations. A COFG mouse model with Mab21l1-null mutation causes severe microphthalmia and fontanelle dysosteogenesis, similar to the symptoms in human patients. One of the typical symptoms is scrotal agenesis in male infants, while male Mab21l1-null mice show hypoplastic preputial glands, a...
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