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| Nomenclature |
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Symbol:
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Tmc1stitch
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Name:
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transmembrane channel-like gene family 1;
stitch
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MGI ID: |
MGI:5314996 |
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Synonyms: |
Tmc1W554L |
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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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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: ENU induced a G to T mutation at position 1661 resulting in a tryptophan to leucine substitution at amino acid 554 in exon 15 and is predicted to alter protein folding. Protein expression is reduced in the type III fibrocytes basal to mid cochlear region but increased in the apical region in homozygous mice. (J:181985)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tmc1 Mutation:
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10 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
