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Targeted Allele Detail
Symbol: Slc26a4tm2.1Dontu
Name: solute carrier family 26, member 4; targeted mutation 2.1, Department of Otolaryngology National Taiwan University Hospital
MGI ID: MGI:5529273
Synonyms: Slc26a4tm2Dontuh
Gene: Slc26a4  Location: Chr12:31519827-31559969 bp, - strand  Genetic Position: Chr12, 13.53 cM, cytoband B1
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+
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsA 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 human populations with hereditary hearing loss. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 19. (J:203206)
View phenotypes for all genotypes (concatenated display).
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:  5 strains or lines available
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory