PDF(Pubmed)
Abstract：
Hypotrichosis simplex (HS) and woolly hair (WH) are rare and monogenic disorders of hair loss. HS, characterized by a diffuse loss of hair, usually begins in early childhood and progresses into adulthood. WH displays strong coiled hair involving a localized area of the scalp or covering the entire side. Mutations in the keratin K71(KRT71) gene have been reported to underlie HS and WH. Here, we report the generation of a mouse model of HS and WH by the co-injection of Cas9 mRNA and sgRNA, targeting exon6 into mouse zygotes. The Krt71-knockout (KO) mice displayed the typical phenotypes, including Krt71 protein expression deletion and curly hair in their full body. Moreover, we found that mice in 3-5 weeks showed a new phenomenon of the complete shedding of hair, which was similar to nude mice. However, we discovered that the mice exhibited no immune deficiency, which was a typical feature of nude mice. To our knowledge, this novel mouse model generated by the CRISPR/Cas9 system mimicked woolly hair and could be valuable for hair disorder studies.
摘要：
单纯毛症（HS）和羊毛毛（WH）是罕见的单基因脱发疾病。HS,以头发弥漫性脱落为特征，通常从儿童早期开始，并发展到成年。WH表现出强烈的卷曲毛发,其涉及头皮的局部区域或覆盖整个侧面。据报道，角蛋白K71（KRT71）基因的突变是HS和WH的基础。这里,我们报道了通过共注射Cas9mRNA和sgRNA产生HS和WH的小鼠模型，靶向外显子6进入小鼠受精卵。Krt71敲除（KO）小鼠表现出典型的表型，包括Krt71蛋白表达缺失和全身卷发。此外，我们发现老鼠在3-5周内出现了毛发完全脱落的新现象，类似于裸鼠。然而,我们发现小鼠没有表现出免疫缺陷，这是裸鼠的典型特征。据我们所知,这种由CRISPR/Cas9系统产生的新型小鼠模型模仿了羊毛，可能对毛发紊乱研究有价值。
