Homozygous Cep290 (centrosomal protein 290) targeted mutation neonates are runted and display retinal degeneration. Normal body weight is attained 1-2 months after birth. Both male and female homozygotes are sterile. This strain may be useful in studies of retinal degeneration, cilia/flagella development and fertility.
Exons 36, 37 and the intervening intronic sequence were replaced by a targeting cassette containing "loxP-exon36-intron-exon37-loxP-neomycin resistance-loxP". A 129-derived embryonic stem cell line was used to create the mutation. The floxed sequences were deleted by crossing mice with EIIa-cre mice on an ICR genetic background. Deletion of exons 36 and 37 creates a premature stop codon. This strain was backcrossed five times to C57BL/6 by the donating laboratory (see SNP note below).
A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. 18 markers on 15 chromosomes were found to be segregating, suggesting an incomplete backcross.
|Allele Name||targeted mutation 1.1, Joseph Gleeson|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Cep290, centrosomal protein 290|
|Strain of Origin||129|
|Molecular Note||Exons 36, 37 and the intervening intronic sequence were replaced by a targeting cassette containing "loxP-exon36-intron-exon37-loxP-neomycin resistance-loxP". The floxed sequences were deleted by crossing mice with Tg(EIIa-cre)C5379Lmgd mice on an ICR genetic background. Deletion of exons 36 and 37 creates a premature stop codon.|
|Mutations Made By|| |
Joseph Gleeson, University of California, San Diego
When maintained as a live colony, heterozygotes may be bred. Homozygous males and females are sterile.
When using the STOCK Cep290tm1.1Jgg/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013702 in your Materials and Methods section.