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

Symbol:	Slc3a1pbl
Name:	solute carrier family 3, member 1; pebbles
MGI ID:	MGI:2677291
Gene:	Slc3a1  Location: Chr17:85335804-85371664 bp, + strand  Genetic Position: Chr17, 55.17 cM
Alliance:	Slc3a1pbl page

Strain of Origin:

C3HeB/FeJ

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: An ENU induced D to G mutation within exon 1 (nt 464) results in an aspartic acid to glycine 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

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

In Structures Affected by this Mutation:

10 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 Slc3a1 Mutation:	38 strains or lines available

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)