These mice carry a spontaneous recessive mutation at the Tmie locus characterized by hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear.Read More +
The Tmiesr-J recessive spontaneous mutation is due to a single nucleotide substitution C1451T in exon 5, producing a nonsense mutation altering an arginine codon that prevents expression of the majority of the C-terminal charged domain. Tmiesr-J transcripts are found in several tissues, including the cochlea. Loss of function of Tmiesr-J results in postnatal alterations of sensory hair cells in the cochlea, including defects in stereocilia, the apical projections of hair cells that are important in mechanotransduction of sound. These morphological defects are associated with a profound failure to develop normal auditory function. Genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus. The spinner Jackson mutant is thus a valuable model for insight into mechanisms of human deafness and development of sensory cell function.
The spinner Jackson (sr-J) mutation arose spontaneously in 1998 in the BXA4/PgnJ strain at The Jackson Laboratory when that strain was at generation F67. This mutant subline was maintained through sibling mating primarily heterozygotes with homozygotes. In 2003 homozygous males at generation F67+10 were bred with heterozygous and wild-type siblings to generate embryos for cryopreservation.
|Allele Name||spinner Jackson|
|Gene Symbol and Name||Tmie, transmembrane inner ear|
|Strain of Origin||BXA4/PgnJ|
|Molecular Note||A 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.|
When using the spinner Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003929 in your Materials and Methods section.