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| Nomenclature |
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Symbol:
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Slc26a4tm1.1Dontu
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Name:
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solute carrier family 26, member 4;
targeted mutation 1.1, Department of Otolaryngology National Taiwan University Hospital
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MGI ID: |
MGI:5293411 |
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Synonyms: |
Slc26a4tm1Dontuh |
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Gene:
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Slc26a4
Location:
Chr12:31519827-31559969 bp, - strand
Genetic Position: Chr12,
13.53 cM, cytoband B1
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Structural aberrations of the vestibular aqueduct and endolymphatic sac in Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu mice
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:175861
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: An FRT-flanked neo cassette with a 5' loxP site was inserted upstream of exon 7. Intron 7 was replaced with one in which an A to G transition in exon 8 (c.919-2A>G). This point mutation results in the exclusion of exon 8 from transcripts and the introduction of a stop codon at position 348. Flp-mediated recombination removed the neo cassette. (J:175861)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Slc26a4 Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
