CBA.Cg-Tmc1^dn/AjgJ

Stock number: 006169
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Homozygotes for this spontaneous mutation exhibit degeneration in the spiral ganglion neurons as well as the organ of Corti and the saccular macula. Mice are deaf throughout life. This strain may be used to research inherited deafness.

Detailed description

Homozygotes for this spontaneous mutation exhibit degeneration in the spiral ganglion neurons as well as the organ of Corti and the saccular macula. Mice are deaf throughout life. This strain may be used to research inherited deafness.

Development

This spontaneous mutation arose on a curly tail stock maintained by M.S. Deol and W Kocher at the MRC for Experimental Research in Inherited Diseases, University College, London in 1958. Prior to 1980, the colony was transferred to the MRC Institute of Hearing Research, Nottingham, UK and maintained as a heterogenous closed colony. Presumably in the late 1990’s, the mutation was outcrossed to CBA and transferred to Dr. Bruce Walmsley at the Australian National University in Canberra (Oleskevich S, et al. 2002). Dr. Andrew Griffith of the NIH imported the colony from Dr. Walmsley and backcrossed to CBA/J for five generations. The Jackson Laboratory Repository imported this strain in 2007.

Allele

Symbol: Tmc1^dn
Name: deafness
MGI accession ID: MGI:1856845
Generation method: Spontaneous
Synonyms: dn
Marker symbol: Tmc1
Marker name: transmembrane channel-like gene family 1
Marker synonyms: 4933416G09Rik; Beethoven; Bth; DFNA36; DFNB11; DFNB7
Chromosome: 19
Strain of origin: STOCK Grhl3^ct/J
Molecular note: The 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.