Cep290^{Gt(CC0582)Wtsi}
Gene trapped Allele Detail

Summary

• Symbol: Cep290^{Gt(CC0582)Wtsi}
• Name: centrosomal protein 290; gene trap CC0582, Wellcome Trust Sanger Institute
• MGI ID: MGI:3870362
• Synonyms: Cep290^gt, Cep290^LacZ
• Gene: Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
• Alliance: Cep290^{Gt(CC0582)Wtsi} page

Cep290^{Gt(CC0582)Wtsi}/Cep290^{Gt(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 details: The 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)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  CC0582	DU635568 ; (MGI Seq Detail)	5' RACE	Chr10:100359089-100359264 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  3 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Generation of the Cep290^{Gt(CC0582)Wtsi} allele

Disease models

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: 124 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)