Tmc1^Mhdabth
Chemically induced Allele Detail

Summary

• Symbol: Tmc1^Mhdabth
• Name: transmembrane channel-like gene family 1; Martin Hrabe de Angelis beethoven
• MGI ID: MGI:2177263
• Synonyms: beethoven, Bth, DEA3, Tmc1^Bth
• Gene: Tmc1 Location: Chr19:20760822-20931566 bp, - strand Genetic Position: Chr19, 13.98 cM, cytoband B
• Alliance: Tmc1^Mhdabth page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a T-to-A transversion at position 1235 in exon 13 of the gene. It is predicted to change amino acid 412 from a methionine to a lysine. (J:75103)
• Inheritance: Semidominant

Disease models

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 Tmc1 Mutation: 60 strains or lines available

References

• Original: J:75103 Vreugde S, et al., Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet. 2002 Mar;30(3):257-8
• All: 17 reference(s)