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Cep290Gt(CC0582)Wtsi
Gene trapped Allele Detail
Summary
Symbol: Cep290Gt(CC0582)Wtsi
Name: centrosomal protein 290; gene trap CC0582, Wellcome Trust Sanger Institute
MGI ID: MGI:3870362
Synonyms: Cep290gt, Cep290LacZ
Gene: Cep290  Location: Chr10:100323410-100409527 bp, + strand  Genetic Position: Chr10, 51.48 cM
Alliance: Cep290Gt(CC0582)Wtsi page
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi mice exhibit progressive renal collecting duct cystic disease

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Mutant Cell Line:  CC0582
Germline Transmission:  Earliest citation of germline transmission: J:212182
Parent Cell Line:  E14TG2a.4 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Project Collection: Sanger Inst. Gene Trap Res.
Mutation
description
Allele Type:    Gene trapped (Hypomorph)
Mutation:    Insertion of gene trap vector     Vector: pGT0lxfT2
 
Mutation detailsThe gene was disrupted by a gene trap insertion within intron 23 and resulted in a hypomorphic mutation. The gene trap contains a beta-galactosidase/neomycin reporter gene with a ribosomal reentry site (IRES) followed by a poly(A) tail. Genomic DNA PCR confirmed the insertion of the gene trap and localized it to 3.308 kb downstream of exon 24. (J:212182)
Sequence Tags: 
Sequence tag details (1 tag)
Genome Context: 
Genome Browser view of this mutation
Generation of the Cep290Gt(CC0582)Wtsi allele
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 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 Cep290 Mutation:  126 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Nephronophthisis (J:212182)
References
Original:  J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008;
All:  7 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
04/16/2024
MGI 6.23
The Jackson Laboratory