mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)

Genomics. 1997 Sep 15;44(3):266-72. doi: 10.1006/geno.1997.4869.

Abstract

The deaf waddler (dfw) mutation is a model system to study the biology of neuroepithelial hearing defects in mice. Here we describe the identification and characterization of a new allele of deaf waddler (dfw2J) and present evidence for a hearing susceptibility locus (mdfw) that interacts with dfw. We found that CBy-dfw2J/dfw2J homozygotes exhibit no discernible auditory brainstem responses (ABR) to sound pressure level stimuli up to 100 dB, indicating a profound deafness. Interestingly, the ABR in CBy-dfw2J/+ heterozygotes is also abnormal, showing age-dependent elevated thresholds characteristic of a progressive hearing loss. When outcrossed onto the CAST/Ei strain, only 24% of the F2 CBy/CAST-dfw2J/ + heterozygotes displayed increased ABR thresholds, suggesting that a second locus, controlling hearing function in dfw2J/+ heterozygotes, was segregating in the CBy/CAST-dfw2J intercross. By linkage analysis, we localized this locus (mdfw) to Chromosome 10, between markers D10Mit127 and D10Mit185, within a 4.0 +/- 1.1 cM genetic interval. All CBy/CAST-dfw2J/+ heterozygotes that develop hearing loss are homozygous for the CBy-derived recessive allele (mdfwC). In contrast, CBy/ CAST-dfw2J/+ heterozygotes expressing even a single copy of the CAST/Ei-derived mdfw allele (Mdfw) retain their normal hearing function. Our results reveal an epistatic relationship between the mdfw and the dfw genes and provide a model system to study nonsyndromic hearing loss in mice.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping
  • Deafness / genetics*
  • Deafness / physiopathology
  • Disease Susceptibility
  • Evoked Potentials, Auditory, Brain Stem / genetics
  • Genetic Carrier Screening
  • Genetic Markers
  • Homozygote
  • Mice
  • Mice, Inbred A
  • Mice, Inbred AKR
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mice, Neurologic Mutants
  • Microsatellite Repeats
  • Phenotype

Substances

  • Genetic Markers