The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear.
The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear.
复制标题
与性别相关的烦躁突变消除了胚胎内耳中 Brn4/Pou3f4 基因的表达。
DOI：
10.1093/hmg/9.1.79
复制
发表时间：
2000
影响因子：
3.5
通讯作者：
Crenshaw3rd,EB
中科院分区：
文献类型：
--
作者：
Phippard,D;Boyd,Y;Reed,V;Fisher,G;Masson,WK;Evans,EP;Saunders,JC;Crenshaw3rd,EB
We have demonstrated that the phenotype of the mouse mutantsex-linked fidget(slf) is caused by developmental malformations of the inner ear that result in hearing loss and vestibular dysfunction. Recently, pilot mapping experiments suggested that the mouseBrn4/Pou3f4gene co-segregated with theslflocus on the mouse X chromosome. These mapping data, in conjunction with the observation that the vertical head-shaking phenotype ofslfmutants is identical to that observed in mice with a targeted deletion of theBrn4gene, suggested thatslfis a mutant allele of theBrn4gene. In this paper, we have identified the nature of theslfmutation, and demonstrated that it is an X chromosomal inversion with one breakpoint close toBrn4. This inversion selectively eliminates the expression of theBrn4gene in the developing inner ear, but not the neural tube. Finally, these results demonstrate that theslfmutation is a good mouse model for the most prevalent form of X-linked congenital deafness in man, which is associated with mutations in the humanBrn4ortholog,POU3F4.
