Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr18:61329926-61344668 bp, - strand  Genetic Position: Chr18, 34.41 cM, cytoband D3
Alliance:	Slc26a2tm1Aros page

Germline Transmission:	Earliest citation of germline transmission: J:97104
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1+

Allele Type:    Targeted (Hypomorph) Mutation:    Insertion   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 compprising ~40 and 60% of the total transcript in hetero- and homozygous animals, respectively. (J:97104)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	30 strains or lines available

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:	7 reference(s)