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Cep290tm1.1Jgg
Targeted Allele Detail
Nomenclature
Symbol: Cep290tm1.1Jgg
Name: centrosomal protein 290; targeted mutation 1.1, Joseph Gleeson
MGI ID: MGI:4835226
Gene: Cep290  Location: Chr10:100487548-100573665 bp, + strand  Genetic Position: Chr10, 51.48 cM
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 detailsExons 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)
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: 4 anatomical structures
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:  6 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/31/2018
MGI 6.12
The Jackson Laboratory