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Slc3a1m1Crl
Spontaneous Allele Detail
Nomenclature
Symbol: Slc3a1m1Crl
Name: solute carrier family 3, member 1; mutation 1, Charles River Laboratories
MGI ID: MGI:5707297
Gene: Slc3a1  Location: Chr17:85028376-85064236 bp, + strand  Genetic Position: Chr17, 55.17 cM
Mutation
origin
Strain of Origin:  129S2/SvPasCrl
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous G-to-A point mutation in exon 7 results in the amino acid substitution of glutamic acid with lysine at position 383 (p.E383K). This mutation is not present in 129S1/Sv or 129S2/SvPas mice. Western blot analysis confirmed the absence of protein expression in the kidney cortex. (J:219017)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 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
References
Original:  J:219017 Livrozet M, et al., An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. PLoS One. 2014;9(7):e102700
All:  1 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
04/13/2021
MGI 6.16
The Jackson Laboratory