Faculty Research 1990 - 1999
Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.
Document Type
Article
Publication Date
1995
Keywords
Chromosomes-Human-Pair-11, Deafness: ge, pp, pa, Disease-Models-Animal, Genes-Recessive, Human, Labyrinth: pa, Mice, Mice-Inbred-C57BL, Mice-Mutant-Strains: ah, ge, hi, ph, Retinal-Degeneration: ge, pp, pa, Rod-Outer-Segments: ul, SUPPORT-U-S-GOVT-P-H-S, Syndrome
First Page
11100
Last Page
11104
JAX Source
Proc Natl Acad Sci U S A 1995 Nov 21;92(24):11100-4
Grant
R01EY07758/EY/NEI, R01EY06463/EY/NEI, PO1RR01183/RR/NCRR
Abstract
Usher syndrome is a group of diseases with autosomal recessive inheritance, congenital hearing loss, and the development of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and visual field loss over several decades. The causes of Usher syndrome are unknown and no animal models have been available for study. Four human gene sites have been reported, suggesting at least four separate forms of Usher syndrome. We report a mouse model of type I Usher syndrome, rd5, whose linkage on mouse chromosome 7 to Hbb and tub has homology to human Usher I reported on human chromosome 11p15. The electroretinogram in homozygous rd5/rd5 mouse is never normal with reduced amplitudes that extinguish by 6 months. Auditory-evoked response testing demonstrates increased hearing thresholds more than control at 3 weeks of about 30 decibels (dB) that worsen to about 45 dB by 6 months.
Recommended Citation
Heckenlively JR,
Chang B,
Erway LC,
Peng C,
Hawes NL,
Hageman GS,
Roderick TH.
Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. Proc Natl Acad Sci U S A 1995 Nov 21;92(24):11100-4