About   Help   FAQ
Slc3a1pbl
Chemically induced Allele Detail
Nomenclature
Symbol: Slc3a1pbl
Name: solute carrier family 3, member 1; pebbles
MGI ID: MGI:2677291
Gene: Slc3a1  Location: Chr17:85028376-85064236 bp, + strand  Genetic Position: Chr17, 55.17 cM
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn ENU induced A to G mutation within exon 1 (nt 464) results in a glycine to aspartic acid missense mutation at codon 140. The substituted residue falls within the extracellular domain and is highly conserved across species. RT-PCR analysis indicated that the mutation does not significantly affect transcript levels. (J:85461)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 11 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 Slc3a1 Mutation:  25 strains or lines available
Notes
Possible involvement in Hartnup disorder (OMIM 234500), a syndrome of renal failure with thrombocytopenia and hemolytic anemia, has also been suggested (J:4747).
References
Original:  J:85461 Peters T, et al., A mouse model for cystinuria type I. Hum Mol Genet. 2003 Sep 1;12(17):2109-20
All:  2 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/23/2021
MGI 6.16
The Jackson Laboratory