GeneSet Information

Tier II GS129196 • Tmc1 modifier 2 (Tmc1m2 Published QTL Chr 11)


QTL associated with Tmc1 modifier 2. The confidence interval is Chr11:56786703-114128445 bp,+strand


QTL-Tmc1m2-Mouse-Chr 11









Noguchi Y, Kurima K, Makishima T, de Angelis MH, Fuchs H, Frolenkov G, Kitamura K, Griffith AJ


Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.


Genetics Aug 2006, Vol 173, pp. 2111-9


Dominant mutations of transmembrane channel-like gene 1 (TMC1) cause progressive sensorineural hearing loss in humans and Beethoven (Tmc1Bth/+) mice. Here we show that Tmc1Bth/+ mice on a C3HeB/FeJ strain background have selective degeneration of inner hair cells while outer hair cells remain structurally and functionally intact. Inner hair cells primarily function as afferent sensory cells, whereas outer hair cells are electromotile amplifiers of auditory stimuli that can be functionally assessed by distortion product otoacoustic emission (DPOAE) analysis. When C3H-Tmc1Bth/Bth is crossed with either C57BL/6J or DBA/2J wild-type mice, F1 hybrid Tmc1Bth/+ progeny have increased hearing loss associated with increased degeneration of outer hair cells and diminution of DPOAE amplitudes but no difference in degeneration of inner hair cells. We mapped at least one quantitative trait locus (QTL), Tmc1m1, for DPOAE amplitude on chromosome 2 in [(C/B)F1xC]N2-Tmc1Bth/+ backcross progeny, and three other QTL on chromosomes 11 (Tmc1m2), 12 (Tmc1m3), and 5 (Tmc1m4) in [(C/D)F1xC]N2-Tmc1Bth/+ progeny. The polygenic basis of outer hair cell degeneration in Beethoven mice provides a model system for the dissection of common, complex hearing loss phenotypes, such as presbycusis, that involve outer hair cell degeneration in humans. PUBMED: 16648588
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Annotation Information

Hearing (D006309)
Chromosomes (D002875)
Quantitative Trait Loci (D040641)
Dissection (D004210)
Presbycusis (D011304)
Chromosomes, Human, Pair 2 (D002889)
Hearing Loss, Sensorineural (D006319)
Chimera (D002678)
Hearing Loss (D034381)
Mutation (D009154)
Confidence Intervals (D016001)
no abnormal phenotype detected (MP:0002169)
sensorineural hearing loss (MP:0004740)
cochlear hair cell degeneration (MP:0004362)
sensory perception of sound (GO:0007605)
chromosome (GO:0005694)

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