Hardisty Rachel E, Erven Alexandra, Logan Karen, Morse Susan, Guionaud Sylvia, Sancho-Oliver Sara, Hunter A Jackie, Brown Steve D M, Steel Karen P
MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, OX11 0RD, UK.
J Assoc Res Otolaryngol. 2003 Jun;4(2):130-8. doi: 10.1007/s10162-002-3015-9.
Otitis media is the most common cause of hearing impairment in children and is primarily characterized by inflammation of the middle ear mucosa. Yet nothing is known of the underlying genetic pathways predisposing to otitis media in the human population. Increasingly, large-scale mouse mutagenesis programs have undertaken systematic and genome-wide efforts to recover large numbers of novel mutations affecting a diverse array of phenotypic areas involved with genetic disease including deafness. As part of the UK mutagenesis program, we have identified a novel deaf mouse mutant, Jeff (Jf). Jeff maps to the distal region of mouse chromosome 17 and presents with fluid and pus in the middle ear cavity. Jeff mutants are 21% smaller than wild-type littermates, have a mild craniofacial abnormality, and have elevated hearing thresholds. Middle ear epithelia of Jeff mice show evidence of a chronic proliferative otitis media. The Jeff mutant should prove valuable in elucidating the underlying genetic pathways predisposing to otitis media.
中耳炎是儿童听力障碍最常见的病因,主要特征是中耳黏膜炎症。然而,关于人类群体中易患中耳炎的潜在遗传途径,我们却一无所知。越来越多的大规模小鼠诱变计划已经展开了系统的全基因组研究,以发现大量影响包括耳聋在内的各种与遗传疾病相关表型区域的新突变。作为英国诱变计划的一部分,我们鉴定出一种新的耳聋小鼠突变体Jeff(Jf)。Jeff定位于小鼠17号染色体的远端区域,中耳腔内有积液和脓液。Jeff突变体比野生型同窝小鼠小21%,有轻度颅面异常,听力阈值升高。Jeff小鼠的中耳上皮显示出慢性增生性中耳炎的迹象。Jeff突变体在阐明易患中耳炎的潜在遗传途径方面应具有重要价值。