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Slc26a2tm1Aros
Targeted Allele Detail
Nomenclature
Symbol: Slc26a2tm1Aros
Name: solute carrier family 26 (sulfate transporter), member 2; targeted mutation 1, Antonio Rossi
MGI ID: MGI:3574926
Synonyms: Dtdst-
Gene: Slc26a2  Location: Chr18:61196854-61211596 bp, - strand  Genetic Position: Chr18, 34.41 cM, cytoband D3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:97104
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation detailsA 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 compprising ~40 and 60% of the total transcript in hetero- and homozygous animals, respectively. (J:97104)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
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 Slc26a2 Mutation:  16 strains or lines available
References
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
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory