Slc3a1^pbl
Chemically induced Allele Detail

Summary

• Symbol: Slc3a1^pbl
• 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: Slc3a1^pbl page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An 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

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Slc3a1 Mutation: 37 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)