Slc26a5^tm1.1Jgao
Targeted Allele Detail

Summary

• Symbol: Slc26a5^tm1.1Jgao
• Name: solute carrier family 26, member 5; targeted mutation 1.1, Jiangang Gao
• MGI ID: MGI:7488191
• Synonyms: Slc26a5 IVS2-2A>G
• Gene: Slc26a5 Location: Chr5:22015653-22070602 bp, - strand Genetic Position: Chr5, 9.97 cM, cytoband A3
• Alliance: Slc26a5^tm1.1Jgao page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:324887
• Parent Cell Line: CMTI-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: The exon 3 splice acceptor site in intron 2 was modified from TAG to TGG and a loxP site flanked neomycin resistance gene cassette was inserted into intron 3. The neo cassette was removed through subsequent Cre-mediated recombination. This mutation in the 5' UTR is the equivalent of the human NM206883.2:c.53-2A>G GRCh38:Chr7:103421569 SNP rs116900495 possibly associated with nonsyndromic deafness disorder DFNB61. The mutation inactivates the splice acceptor site and activates a cryptic CAG acceptor site 11 bp downstream in exon 3. (J:324887)

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 Slc26a5 Mutation: 58 strains or lines available

References

• Original: J:324887 Zhang J, et al., Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation. Mutat Res. 2016 Aug;790:1-7
• All: 1 reference(s)