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Slc23a2tm1Nbm
Targeted Allele Detail
Summary
Symbol: Slc23a2tm1Nbm
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: Slc23a2tm1Nbm 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 details532 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

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
12/10/2024
MGI 6.24
The Jackson Laboratory