The majority of exon 18 was replaced with an ires-cre cassette followed by a CAG-driven FRT-flanked neo gene via homologous recombination. The mutant protein lacks the terminal 1717 amino acids containing the calmodulin binding domain and the C-terminus. The deletion of a 2.6-kb genomic region of exon 18 yields a nonsense mutation resulting in a bicistronic mRNA product containing protein truncated at amino acid 1405, and ires-derived cre expression. Northern and Western blot analysis confirmed the predicted truncation of the mRNA and protein in homozygotes. (J:228026)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count