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| Nomenclature |
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Symbol:
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Slc26a2tm1Aros
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Name:
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solute carrier family 26 (sulfate transporter), member 2;
targeted mutation 1, Antonio Rossi
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MGI ID: |
MGI:3574926 |
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Synonyms: |
Dtdst- |
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Gene:
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Slc26a2
Location:
Chr18:61192919-61211612 bp, - strand
Genetic Position: Chr18,
34.41 cM, cytoband D3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:97104
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A C1184T transition was inserted into exon 3 to create an A286V substitution in the eighth transmembrane domain. A neo was inserted into intron 2. Northern blot of mutant skin samples indicated that the presence of the neo caused impared splicing of exon 2 to exon 3, with an abnormal band of ~40 and 60% of the total transcript in hetero- and homozygous animals, respectively. (J:97104)
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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 Slc26a2 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:97104
Forlino A et al.,
"A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype."
Hum Mol Genet 2005 Mar 15;14(6):859-71
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All: |
3 reference(s)
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Analysis Tools
