Primary Identifier | MGI:5755303 | Allele Type | Targeted |
Gene | Jup | Transmission | Germline |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | Is Recombinase | false |
Is Wild Type | false |
molecularNote | Exons 10 through 14 were replaced with a loxP site, wild-type cDNA fusion encompassing exons 10 through 14, an FRT-flanked neomycin resistance cassette with a 3' loxP site, and a cDNA fusion of exons 10 through 14 with the TG deletion in exon 10 and premature stop codon in exon 12. This mutation mimics the mutation found in patients with Naxos disease. Cre-mediated recombination removed the wild-type cDNA fusion. Western blot analysis confirms normal expression levels of the truncated protein. |