Polygenic Control of the Wavy Coat of the NCT Mouse: Involvement of an Intracisternal A Particle Insertional Mutation of the Protease, Serine 53 (Prss53) Gene, and a Modifier Gene

The study explored the genetic basis of the wavy coat in Nakano cataract mice (NCT), identifying a major gene on chromosome 7 and a minor gene on chromosome 9 as contributors. An insertional mutation in the Prss53 gene, akin to a human polymorphism linked to curly hair, was found but did not affect gene expression in NCT skin. Knockout mice for Prss53 showed vague wavy coats, and crossbreeding experiments revealed varying coat waviness, underscoring the polygenic nature of the trait and its resemblance to human curly hair associated with PRSS53 alterations.