The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
The espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions. We have determined that espins are also present in hair cell stereocilia and have uncovered a connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness, and vestibular dysfunction. The espin gene maps to the same region of mouse chromosome 4 as jerker. The tissues of jerker mice do not accumulate espin proteins but contain normal levels of espin mRNAs. The espin gene of jerker mice has a frameshift mutation that affects the espin C-terminal actin-bundling module. These data suggest that jerker mice are, in effect, espin null and that the jerker phenotype results from a mutation in the espin gene.
Zheng
L
L
Department of Cell and Molecular Biology and the Institute for Neuroscience, Northwestern University Medical School, Chicago, Illinois 60611, USA.
Sekerková
G
G
Vranich
K
K
Tilney
L G
LG
Mugnaini
E
E
Bartles
J R
JR
D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002923:Cilia / Q000737:chemistry* / Q000648:ultrastructure; D003051:Cochlea / Q000737:chemistry / Q000648:ultrastructure; D003638:Deafness / Q000235:genetics*; D016368:Frameshift Mutation; D006198:Hair Cells, Auditory / Q000737:chemistry* / Q000648:ultrastructure; D006720:Homozygote; D007668:Kidney / Q000737:chemistry; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008840:Microfilament Proteins / Q000235:genetics* / Q000302:isolation & purification*; D008969:Molecular Sequence Data; D013737:Testis / Q000737:chemistry; D014722:Vestibule, Labyrinth / Q000737:chemistry / Q000648:ultrastructure
D008840:Microfilament Proteins; C104108:espin protein, mouse