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| Nomenclature |
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Symbol:
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Tmc1dn
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Name:
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transmembrane channel-like gene family 1;
deafness
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MGI ID: |
MGI:1856845 |
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Synonyms: |
dn |
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Gene:
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Tmc1
Location:
Chr19:20783458-20954202 bp, - strand
Genetic Position: Chr19,
13.98 cM, cytoband B
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Mutation
origin |
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Strain of Origin:
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STOCK Grhl3ct/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: The mutation is a 1656 bp deletion including exon 14 and flanking intronic sequences. RT-PCR analysis confirmed that an mRNA was made that spliced exon 13 sequences in frame to exon 15 sequences. (J:75142)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
The deafness mutation was found in a stock at University College, London, one of several discovered during a systematic search for uncomplicated deafness genes. Fertility of homozygotes is normal. Homozygotes are deaf their entire life, and a few of them show slight head-tossing (J:236). Auditory thresholds of heterozygotes are normal (J:14069).
Cochlear inner hair cells of Tmc1dn/Tmc1dn homozygotes are abnormally vacuolated at birth; afferent dendrites are swollen and devoid of cytoplasmic content, and an abnormal smooth endoplasmic reticulum appeared in spiral ganglion neurons. These abnormalities greatly increased by day 7, with filamentous material in the spiral ganglion neurons (J:32691). Most of the hair cells have degenerated by 40 days of age (J:22445). The macula of the sacculus may degenerate in both the head-tossing and normal behaving mice, but remains histologically normal in many of them (J:236). Webster (J:1600) found degeneration followed by partial regeneration of the organ of Corti in Tmc1dn/Tmc1dn homozygotes.
Stimulus-induced action potential in the auditory nerve is absent at all ages tested from 12 days on (J:22445). However, central auditory function is preserved as shown by evoked action potentials in the inferior colliculus in response to direct stimulation of the cochlear nerve (J:6806). Peak-to-peak response amplitudes were greater in young and intermediate aged mutant animals than in controls (J:28899).
Distortion product (2f1-f2) otoacoustic emissions generated in the cochlea have been proposed as a monitor for cochlear function. In Tmc1dn/Tmc1dn mice, emissions could not be detected, as might be expected due to the considerable cochlear damage (J:32693).
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| References |
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Original: |
J:236
Deol MS et al.,
"A new gene for deafness in the mouse"
Heredity 1958;12():463-6
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All: |
20 reference(s)
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Analysis Tools
