Slc13a1^tm1Mark
Targeted Allele Detail

Summary

• Symbol: Slc13a1^tm1Mark
• Name: solute carrier family 13 (sodium/sulfate symporters), member 1; targeted mutation 1, Daniel Markovich
• MGI ID: MGI:2682798
• Synonyms: Nas1-
• Gene: Slc13a1 Location: Chr6:24088282-24168091 bp, - strand Genetic Position: Chr6, 11.22 cM
• Alliance: Slc13a1^tm1Mark page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86561
• Parent Cell Line: C1368 (ES Cell)
• Strain of Origin: 129T2/SvEms

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A genomic fragment encompassing exons 4 through 6 was replaced with a neomycin selection cassette. Two species of truncated transcripts, each ~300 nt smaller than the two species found in wild-type mice, were detected in mutant mice by RT-PCR analysis. Sequencing of the aberrant transcripts showed that exon 3 had spliced to exon 7, generating a stop codon at the junction. The mutant trancsripts putatively encode 121 N-terminal residues. Experiments using xenopus oocytes indicated that the transcripts were unable to induce sodium-sulfate cotransportion. (J:86561)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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 Slc13a1 Mutation: 39 strains or lines available

References

• Original: J:86561 Dawson PA, et al., Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene. Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13704-9
• All: 12 reference(s)