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Allele : Slc26a5<tm1.1Jgao> solute carrier family 26, member 5; targeted mutation 1.1, Jiangang Gao

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.−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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Slc26a5 IVS2-2A>G,
  • Slc26a5 IVS2-2A>G
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele