Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Cep290rd16
Name:	centrosomal protein 290; retinal degeneration 16
MGI ID:	MGI:3624136
Synonyms:	rd16
Gene:	Cep290  Location: Chr10:100323410-100409527 bp, + strand  Genetic Position: Chr10, 51.48 cM
Alliance:	Cep290rd16 page

Strain of Origin:

BXD24/TyJ

Allele Type:    Spontaneous (Hypomorph) Mutation:    Intragenic deletion   Mutation details: The 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	10 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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:	126 strains or lines available

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:	28 reference(s)