Paradigms and paradoxes: Mouse (and human) models of genetic deafness

被引:13
作者
Hughes, DC
机构
[1] MRC Institute of Hearing Research, University of Nottingham, Nottingham, NG7 2RD, University park
关键词
mouse; deafness; Kreisler; fibroblast growth factor; myosin; collagen; position effects;
D O I
10.1159/000259224
中图分类号
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号
100104 ; 100213 ;
摘要
Mouse models have proved valuable tools in the analysis of human genetic disorders. The identification of the genes mutated in classical mouse mutants and the analysis of the phenotype of mutants following targeted gene disruption have provided some clarification of the development and functioning of the inner ear. A number of these genes also play a role in human deafness. Analysis of mutations in both human and mouse deafness genes has identified a number of distinct phenomena that contribute to the observed phenotype.
引用
收藏
页码:3 / 11
页数:9
相关论文
共 44 条
[1]   THE MOUSE SNELLS WALTZER DEAFNESS GENE ENCODES AN UNCONVENTIONAL MYOSIN REQUIRED FOR STRUCTURAL INTEGRITY OF INNER-EAR HAIR-CELLS [J].
AVRAHAM, KB ;
HASSON, T ;
STEEL, KP ;
KINGSLEY, DM ;
RUSSELL, LB ;
MOOSEKER, MS ;
COPELAND, NG ;
JENKINS, NA .
NATURE GENETICS, 1995, 11 (04) :369-375
[2]   Good genes in bad neighbourhoods [J].
Bedell, MA ;
Jenkins, NA ;
Copeland, NG .
NATURE GENETICS, 1996, 12 (03) :229-232
[3]  
CHO H, 1991, ANN NY ACAD SCI, V630, P259
[4]  
COHEN MM, 1996, HEREDITARY HEARING L, P141
[5]   Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3 [J].
Colvin, JS ;
Bohne, BA ;
Harding, GW ;
McEwen, DG ;
Ornitz, DM .
NATURE GENETICS, 1996, 12 (04) :390-397
[6]   THE MOUSE SEGMENTATION GENE KR ENCODES A NOVEL BASIC DOMAIN LEUCINE-ZIPPER TRANSCRIPTION FACTOR [J].
CORDES, SP ;
BARSH, GS .
CELL, 1994, 79 (06) :1025-1034
[7]  
Cosgrove D, 1996, HEARING RES, V97, P54
[8]   Mice as models of human developmental disorders: Natural and artificial mutants [J].
Darling, S .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 1996, 6 (03) :289-294
[9]   MOUSE MODELS OF HUMAN SINGLE GENE DISORDERS .1. NONTRANSGENIC MICE [J].
DARLING, SM ;
ABBOTT, CM .
BIOESSAYS, 1992, 14 (06) :359-366
[10]   Human/mouse homology relationships [J].
DeBry, RW ;
Seldin, MF .
GENOMICS, 1996, 33 (03) :337-351