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Tmc1nice
Chemically induced Allele Detail
Summary
Symbol: Tmc1nice
Name: transmembrane channel-like gene family 1; nice
MGI ID: MGI:5314995
Synonyms: Tmc1Y449H
Gene: Tmc1  Location: Chr19:20760822-20931566 bp, - strand  Genetic Position: Chr19, 13.98 cM, cytoband B
Alliance: Tmc1nice page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU induced a T to C mutation at position 1345 resulting in a tyrosine to histidine substitution at amino acid 449 in exon 13 and is predicted to disrupt transmembrane domain 4. Protein expression is reduced in the type III fibrocytes basal to mid cochlear region in homozygous mice. (J:181985)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tmc1 Mutation:  60 strains or lines available
References
Original:  J:181985 Manji SS, et al., Identification of three novel hearing loss mouse strains with mutations in the tmc1 gene. Am J Pathol. 2012 Apr;180(4):1560-9
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory