Cep290^tm1.1Rwjc
Targeted Allele Detail

Summary

• Symbol: Cep290^tm1.1Rwjc
• Name: centrosomal protein 290; targeted mutation 1.1, Robert WJ Collin
• MGI ID: MGI:5578355
• Synonyms: Cep290^hum
• Gene: Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
• Alliance: Cep290^tm1.1Rwjc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:209218
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Cep290^tm1.1Rwjc expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  CEP290 (80184)

  Cep290

  (MGI:2384917)

  Exons 25 and 26 of the mouse gene were replaced with the sequence for human exons 26 and 27

• Mutation details: Exons 25 and 26 were replaced with the sequence for human exon 26 and 27. Cre-mediated recombination removed a floxed neomycin resistance cassette inserted downstream of human exon 27. (J:209218)

Generation of the Cep290^tm1.1Rwjc and Cep290^tm2.1Rwjc alleles

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

References

• Original: J:209218 Garanto A, et al., Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One. 2013;8(11):e79369
• All: 1 reference(s)