Cep290^rd16

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)