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Tmiesr-J
Spontaneous Allele Detail
Summary
Symbol: Tmiesr-J
Name: transmembrane inner ear; spinner Jackson
MGI ID: MGI:2182706
Synonyms: srJ
Gene: Tmie  Location: Chr9:110694755-110709141 bp, - strand  Genetic Position: Chr9, 60.79 cM
Alliance: Tmiesr-J page
Mutation
origin
Strain of Origin:  BXA4/PgnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA single nucleotide C-toT substitution in exon 5 produced a nonsense mutation at arginine codon 97 (p.R97*) that will prevent expression of the majority of the C-terminal charged domain. (J:78124)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tmie Mutation:  15 strains or lines available
References
Original:  J:78124 Mitchem KL, et al., Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. Hum Mol Genet. 2002 Aug 1;11(16):1887-98
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory