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Spontaneous Allele Detail
Symbol: Tmc1dn
Name: transmembrane channel-like gene family 1; deafness
MGI ID: MGI:1856845
Synonyms: dn
Gene: Tmc1  Location: Chr19:20783458-20954202 bp, - strand  Genetic Position: Chr19, 13.98 cM, cytoband B
Strain of Origin:  STOCK Grhl3ct/J
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsThe 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)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 1 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Tmc1 Mutation:  10 strains or lines available
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).

Original:  J:236 Deol MS, et al., A new gene for deafness in the mouse. Heredity. 1958;12:463-6
All:  20 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
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