| Primary Identifier | MGI:3624136 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Cep290 |
| Strain of Origin | BXD24/TyJ | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
