Krt86-flox Mouse

Krt86, a type II hair keratin gene, is crucial for the structure and integrity of hair shafts. It is also associated with uterine receptivity during embryo implantation, with its expression regulated by oestradiol and progesterone [4]. Mutations in Krt86 are linked to monilethrix, an autosomal dominant hair disorder [1,2,3,5,6,7,8].

Multiple studies have identified various Krt86 mutations in families with monilethrix. These mutations lead to fragile and easily-breakable hairs, often accompanied by follicular hyperkeratosis and scarring alopecia [1]. Some mutations, like the c.1231G>T;p.Glu411* in a Turkish family [2], the R430Q (KRT86) in a Han family [3], and a heterozygous transversion c.1204G > A (p.E402K) in a Chinese Han family [7], have been found to be pathogenic for monilethrix. Additionally, a novel A280V (c.839C > T substitution) mutation in the coil 2A region of Krt86 was identified in a Tasmanian family, expanding the spectrum of mutations associated with monilethrix [8].

In conclusion, Krt86 is essential for normal hair development and uterine function during implantation. Research on Krt86 mutations in monilethrix patients has enhanced our understanding of the genetic basis of this hair disorder, potentially guiding future diagnostic and therapeutic strategies for monilethrix.