DESCRIPTION:

QTL associated with age-related hearing loss 6. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (70388916)

LABEL:

QTL-Ahl6-Mouse-Chr 18

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2024-10-22

SPECIES:

URI:

http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:3514195

AUTHORS:

Johnson KR, Zheng QY, Noben-Trauth K

TITLE:

Strain background effects and genetic modifiers of hearing in mice.

JOURNAL:

Brain research May 2006, Vol 1091, pp. 79-88

ABSTRACT:

Genetic modifiers can be detected in mice by looking for strain background differences in inheritance or phenotype of a mutation. They can be mapped by analyses of appropriate linkage crosses and congenic lines, and modifier genes of large effect can be identified by positional-candidate gene testing. Inbred strains of mice vary widely in onset and severity of age-related hearing loss (AHL), an important consideration when assessing hearing in mutant mice. At least 8 mapped loci and a mitochondrial variant (mt-Tr) are known to contribute to AHL in mouse strains; one locus (ahl) has been identified as a variant of the cadherin 23 gene (Cdh23(753A/G)). This variant also was shown to modify hearing loss associated with the Atp2b2(dfw-2J) and Mass1(frings) mutations. The hearing modifier (Moth1) of tubby (Tub(tub)) mutant mice was shown to be a strain variant of the Mtap1a gene. Human hearing modifiers include DFNM1, which suppresses recessive deafness DFNB26, and a nuclear gene that modulates the severity of hearing loss associated with a mitochondrial mutation. Recently, a variant of the human ATP2B2 gene was shown to exacerbate hearing loss in individuals homozygous for a CDH23 mutation, similar to the Atp2b2(dfw-2J)-Cdh23(753A/G) interaction affecting hearing in mice. Because modifier genes and digenic inheritance are not always distinguishable, we also include in this review several examples of digenic inheritance of hearing loss that have been reported in both mice and humans. PUBMED: 16579977
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