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. doi: 10.1073/pnas.92.24.11100.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 11*
  • Deafness / genetics*
  • Deafness / pathology
  • Deafness / physiopathology
  • Disease Models, Animal
  • Ear, Inner / pathology
  • Genes, Recessive
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains / anatomy & histology
  • Mice, Mutant Strains / genetics*
  • Mice, Mutant Strains / physiology
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Retinal Degeneration / physiopathology
  • Rod Cell Outer Segment / ultrastructure
  • Syndrome