Slc26a5^em1Kazh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc26a5^em1Kazh
• Name: solute carrier family 26, member 5; endonuclease-mediated mutation 1, Kazuaki Homma
• MGI ID: MGI:7541599
• Synonyms: R130S-prestin
• Gene: Slc26a5 Location: Chr5:22015653-22070602 bp, - strand Genetic Position: Chr5, 9.97 cM, cytoband A3
• Alliance: Slc26a5^em1Kazh page

Mutation origin

• Strain of Origin: FVB/NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: Arginine codon 130 (AGA) in exon 5 was changed to serine (AGT) (c.390A>T, p.R130S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation (c.390A>C) associated with bilateral sensorineural hearing loss. An additional silent mutation (c.387A>G, p.S129S) was introduced to create a diagnostic XhoI restriction site, replacing the wildtype Hpy188III site. (J:341102)

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 Slc26a5 Mutation: 59 strains or lines available

References

• Original: J:341102 Takahashi S, et al., Prestin's fast motor kinetics is essential for mammalian cochlear amplification. Proc Natl Acad Sci U S A. 2023 Mar 14;120(11):e2217891120
• All: 1 reference(s)