Slc26a4^tm2.1Dontu
Targeted Allele Detail

Summary

• Symbol: Slc26a4^tm2.1Dontu
• Name: solute carrier family 26, member 4; targeted mutation 2.1, Department of Otolaryngology National Taiwan University Hospital
• MGI ID: MGI:5529273
• Synonyms: Slc26a4^tm2Dontuh
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^tm2.1Dontu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203206
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation (A to G) in exon 19 results in the amino acid substitution of arginine for histidine at position 723 (H723R). This mutation is found in Asia in human populations with hereditary hearing loss. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 19. (J:203206, J:284889)

Disease models

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 Slc26a4 Mutation: 38 strains or lines available

References

• Original: J:203206 Lu YC, et al., Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. PLoS One. 2013;8(6):e64906
• All: 2 reference(s)