Cep290^tm1.1Jgg
Targeted Allele Detail

Summary

• Symbol: Cep290^tm1.1Jgg
• Name: centrosomal protein 290; targeted mutation 1.1, Joseph Gleeson
• MGI ID: MGI:4835226
• Synonyms: Cep290^delta
• Gene: Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
• Alliance: Cep290^tm1.1Jgg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:172420
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 36, 37 and the intervening intronic sequence were replaced by a targeting cassette containing "loxP-exon36-intron-exon37-loxP-neomycin resistance-loxP". The floxed sequences were deleted by crossing mice with Tg(EIIa-cre)C5379Lmgd mice on an ICR genetic background. Deletion of exons 36 and 37 creates a premature stop codon. (J:172420)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cep290 Mutation: 126 strains or lines available

References

• Original: J:172420 Lancaster MA, et al., Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011 Jun;17(6):726-31
• All: 5 reference(s)