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Slc7a9tm1Nune
Targeted Allele Detail
Nomenclature
Symbol: Slc7a9tm1Nune
Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9; targeted mutation 1, Virginia Nunes
MGI ID: MGI:2677350
Synonyms: Slc7a9-/-, Stones
Gene: Slc7a9  Location: Chr7:35448796-35466036 bp, + strand  Genetic Position: Chr7, 21.37 cM, cytoband B1
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:85462
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details6.1 kb of sequence, encompassing exons 3 through 9, was replaced with a neo cassette. Though wild-type transcript was undetected by Northern blot analysis of RNA isolated from the kidney cortex and medulla and from the jejunum, an aberrant trancscript in which exons 2 and 10 had spliced together was identified. This transcript contains frameshifted sequence and lacks sequence encoding the 12 transmembrane domains. Protein was undetected in homozygous mutant mice by Western blot analysis in both reducing and non-reducing conditions. (J:85462)
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: 6 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 Slc7a9 Mutation:  19 strains or lines available
References
Original:  J:85462 Feliubadalo L, et al., Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Hum Mol Genet. 2003 Sep 1;12(17):2097-108
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)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory