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Cep290rd16
Spontaneous Allele Detail
Nomenclature
Symbol: Cep290rd16
Name: centrosomal protein 290; retinal degeneration 16
MGI ID: MGI:3624136
Synonyms: rd16
Gene: Cep290  Location: Chr10:100487548-100573665 bp, + strand  Genetic Position: Chr10, 51.48 cM
Mutation
origin
Strain of Origin:  BXD24/TyJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation is a deletion of exons 35 to 39 of the gene. The expressed transcript contains an in-frame deletion of 897 bp, corresponding to amino acids 1599-1897 of the encoded protein, which overlaps with the region of human CEP290 critical for microtubule binding. The truncated protein is detectable in retinal extracts derived from homozygous mice. (J:108467, J:204004)
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: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cep290 Mutation:  6 strains or lines available
References
Original:  J:108467 Chang B, et al., In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006 Jun 1;15(11):1847-57
All:  19 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
10/08/2019
MGI 6.14
The Jackson Laboratory