Slc23a2^tm1Nbm
Targeted Allele Detail

Summary

• Symbol: Slc23a2^tm1Nbm
• Name: solute carrier family 23 (nucleobase transporters), member 2; targeted mutation 1, Robert L Nussbaum
• MGI ID: MGI:2180333
• Synonyms: Slc23a1^-/-, SVCT2^-
• Gene: Slc23a2 Location: Chr2:131894416-131987028 bp, - strand Genetic Position: Chr2, 64.15 cM, cytoband G2
• Alliance: Slc23a2^tm1Nbm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76194
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 532 nucleotides of the gene spanning exons 10-12 were replaced with a neomycin resistance cassette via homologous recombination resulting in a deletion and frameshift. RT-PCR verified the presence of mutant transcript in brain of homozygous mutant animals. Disruption of protein function was verified via ascorbic-acid uptake assay. Mouse embryonic fibroblasts from homozygous mutant animals exhibit less than 5% of normal ascorbic-acid uptake compared to wild-type. (J:76194)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc23a2 Mutation: 72 strains or lines available

References

• Original: J:76194 Sotiriou S, et al., Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nat Med. 2002 May;8(5):514-7
• All: 14 reference(s)