Cep290^rd16
Spontaneous Allele Detail

Summary

• Symbol: Cep290^rd16
• 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: Cep290^rd16 page

Mutation origin

• Strain of Origin: BXD24/TyJ

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:	10 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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: 124 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: 29 reference(s)