Primary Identifier | MGI:7488191 | Allele Type | Targeted |
Attribute String | Not Specified | Gene | Slc26a5 |
Transmission | Germline | Strain of Origin | 129S6/SvEvTac |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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.â53-2A>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. |