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| Nomenclature |
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Symbol:
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Slc26a4pdsm
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Name:
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solute carrier family 26, member 4;
Pendred's syndrome model
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MGI ID: |
MGI:3693973 |
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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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Inner ear histology of an Slc26a4pdsm/Slc26a4pdsm mouse
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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BXA7/PgnJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A T-to-A transversion occurred spontaneously in exon 7 resulting in the introduction of a premature stop codon in the open reading frame. (J:121997)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:121997
Gagnon LH et al.,
"Pendred syndrome model, pdsm, a spontaneous mouse mutation in the Slc26a4 gene with associated inner ear abnormalities"
MGI Direct Data Submission 2007;():
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All: |
1 reference(s)
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Analysis Tools
