The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media
The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media
复制标题
DOI：
10.1007/s10162-002-3015-9
复制
发表时间：
2003-06-01
影响因子：
2.4
通讯作者：
Steel, KP
中科院分区：
文献类型：
--
作者：
Hardisty, RE;Erven, A;Steel, KP
中耳炎是导致儿童听力受损的最常见原因，其主要特征是中耳粘膜发炎。然而，对于人类人群中易患中耳炎的潜在遗传途径，我们一无所知。越来越多地，大规模的小鼠突变计划进行了系统的和全基因组的努力，以恢复大量影响包括耳聋在内的遗传病的不同表型区域的新突变。作为英国突变计划的一部分，我们已经鉴定出一种新的聋鼠突变体Jeff(JF)。杰夫定位于小鼠17号染色体的远端区域，并在中耳腔出现液体和脓液。杰夫突变体比野生型小21%，有轻微的头面部异常，并有较高的听力阈值。杰夫小鼠的中耳上皮显示慢性增殖性中耳炎的证据。杰夫突变体应该被证明在阐明易患中耳炎的潜在遗传途径方面有价值。
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.