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Targeted Allele Detail
Symbol: Ctnstm1Antc
Name: cystinosis, nephropathic; targeted mutation 1, Corinne Antignac
MGI ID: MGI:2388945
Synonyms: Ctns-
Gene: Ctns  Location: Chr11:73074422-73089868 bp, - strand  Genetic Position: Chr11, 45.25 cM
Alliance: Ctnstm1Antc page
Germline Transmission:  Earliest citation of germline transmission: J:79610
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
Mutation detailsThe endogenous allele was disrupted by the insertion of a construct containing an IRES linked beta-geo cassette. Normal transcript was undetected in homozygous mutant mice by Northern blot analysis. The absence of functional protein was indicated by the observation of incorrect localization and a lack of cystine transport activity. (J:79610)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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 Ctns Mutation:  14 strains or lines available
Original:  J:79610 Cherqui S, et al., Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol. 2002 Nov;22(21):7622-32
All:  25 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
MGI 6.22
The Jackson Laboratory