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Targeted Allele Detail
Symbol: Slc26a4tm1.1Dontu
Name: solute carrier family 26, member 4; targeted mutation 1.1, Department of Otolaryngology National Taiwan University Hospital
MGI ID: MGI:5293411
Synonyms: Slc26a4tm1Dontuh
Gene: Slc26a4  Location: Chr12:31519827-31559969 bp, - strand  Genetic Position: Chr12, 13.53 cM, cytoband B1
Structural aberrations of the vestibular aqueduct and endolymphatic sac in Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu mice

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:175861
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Humanized sequence, Hypomorph)
Mutations:    Insertion, Single point mutation
Mutation detailsAn FRT-flanked neo cassette with a 5' loxP site was inserted in intron 6. A mutation at the end of intron 7 was introduced with an A to G transition in the splice acceptor site of exon 8 (c.919-2A>G). This point mutation results in the abolition of the splice site and consequently the exclusion of out-of-frame exon 8 from transcripts and the introduction of a stop codon at codon position 348. Flp-mediated recombination removed the neo cassette. (J:175861)
Plasmid construct for generating the Slc26a4tm1.1Dontu allele
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  17 strains or lines available
Original:  J:175861 Lu YC, et al., Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. PLoS One. 2011;6(7):e22150
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.04
The Jackson Laboratory