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| Nomenclature |
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Symbol:
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Ctnstm1Antc
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Name:
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cystinosis, nephropathic;
targeted mutation 1, Corinne Antignac
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MGI ID: |
MGI:2388945 |
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Synonyms: |
Ctns- |
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Gene:
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Ctns
Location:
Chr11:73183596-73199042 bp, - strand
Genetic Position: Chr11,
45.25 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:79610
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: The 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ctns Mutation:
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1 strain or line available |
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| References |
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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
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All: |
6 reference(s)
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Analysis Tools
