Tmc1^em1Ftpl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmc1^em1Ftpl
• Name: transmembrane channel-like gene family 1; endonuclease-mediated mutation 1, Robert Fettiplace
• MGI ID: MGI:6715678
• Synonyms: Tmc1 p.T416K
• Gene: Tmc1 Location: Chr19:20760822-20931566 bp, - strand Genetic Position: Chr19, 13.98 cM, cytoband B
• Alliance: Tmc1^em1Ftpl page

Mutation origin

• Strain of Origin: FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to introduce a T416K (AAC to AAG) mutation to exon 12 to modify residues near the putative channel pore. A silent mutation was also added to create a Dde1 restriction enzyme site. The mutation is homologous to the pathogenic human T422K mutation. (J:306425)

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: 59 strains or lines available

References

• Original: J:306425 Beurg M, et al., New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells. J Neurosci. 2021 May 19;41(20):4378-4391
• All: 3 reference(s)