Tmc1^em1Jrho
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmc1^em1Jrho
• Name: transmembrane channel-like gene family 1; endonuclease-mediated mutation 1, Jeffrey R Holt
• MGI ID: MGI:7332980
• Synonyms: Tmc1^N193I
• Gene: Tmc1 Location: Chr19:20760822-20931566 bp, - strand Genetic Position: Chr19, 13.98 cM, cytoband B
• Alliance: Tmc1^em1Jrho page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to C change resulting in an asparagine to isoleucine substitution at amino acid 193 (p.N193I). This substitution is homologous to the p.N199I mutation seen in humans with hearing loss. (J:327436)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tmc1 Mutation: 63 strains or lines available

References

• Original: J:327436 Marcovich I, et al., Optimized AAV Vectors for TMC1 Gene Therapy in a Humanized Mouse Model of DFNB7/11. Biomolecules. 2022 Jun 29;12(7)
• All: 1 reference(s)