The “frequent-flyer” mutation in these mice causes a disruption of the gene encoding RNA-binding protein, Celf4 (CUGBP, Elav-like family member 4, also referred to as Bruno-like 4), that leads to limbic and severe tonic-clonic seizures in heterozygous mutants beginning in their third month. Younger heterozygous adults have a reduced seizure threshold. The single mutation in the affected gene regulates the expression of many other genes, which, in turn, cause abnormal nerve cell activity. These mice provide a unique animal model of epilepsy—mimicking the complex genetic architecture of common disease.
|Allele Name||frequent flyer|
|Gene Symbol and Name||Celf4, CUGBP, Elav-like family member 4|
|Strain of Origin||C57BL/6J|
|Molecular Note||Multiple copies (>3) of a non-expressing transgene inserted into the first intron of the gene. In total RNA samples from newborn mice, no transcript of the endogenous gene was detected in homozygotes and approximately 45% reduction was seen in heterozygotes.|